You are 18 years of age or older You have been officially diagnosed with Fabry disease You have one or more of the following symptoms: cloudy patches on the surface of the eye (cornea verticillata), burning or tingling pain in the hands and feet (acroparesthesia), inability to sweat normally (anhidrosis), or small…

The child has obesity caused by a specific genetic condition — either a confirmed change in the POMC, PCSK1, or LEPR gene, or a confirmed diagnosis of Bardet-Biedl Syndrome (BBS), shown through genetic testing. The child is between 2 and 5 years old (must not have turned 6 yet) at the time of signing up. The child has…

You have been diagnosed with Huntington's Disease (HD) confirmed by a genetic test, with a specific genetic marker (CAG repeat) measured between 40 and 50 For one group (earlier stage HD): Your doctor has assessed that you are currently fully independent in daily life and have a high level of functional ability, based…

You previously received a treatment called ST-920 as part of a separate, related clinical trial You have agreed and given your consent to take part in this long-term follow-up study

You have been diagnosed with a congenital portosystemic shunt (CPSS), which is an abnormal blood vessel connection present from birth that bypasses the liver (confirm with trial site)

You have been diagnosed with a rare disease, a disease where the number of people affected is unknown, or you have not yet received a diagnosis for your condition You have been identified as a carrier of a rare or uncommon disease, meaning you carry the gene for a condition but may not have symptoms yourself

You have been diagnosed with classic hairy cell leukemia. You have been diagnosed with the variant form of hairy cell leukemia.

You are willing to take part in the study and able to give your consent to participate You are willing and able to complete all the required visits and assessments at the start of the study You are 4 years of age or older You have a genetic report from an approved laboratory showing a specific gene change (variant)…

You are willing and able to sign a consent form and follow all study procedures You are 18 years old or older For solid tumour patients (Group A): You have been diagnosed (confirmed by lab testing) with an advanced or spreading cancer that cannot be surgically removed, specifically one of these types: triple-negative…

People aged 18 or older (or the legal adult age in their country, whichever is higher) who have given written consent to participate. People who have been diagnosed with advanced or spreading non-small cell lung cancer (NSCLC) that has been confirmed by a laboratory test. Group A: People whose cancer has a specific…

People of any age, whether male or female, may be eligible People who have been diagnosed with Friedreich's ataxia confirmed by genetic testing People who are able and willing to sign a consent form agreeing to take part For participants who are under 18, both the young person and their parent or legal guardian must…

You are 18 years of age or older (or considered a legal adult) You have been formally diagnosed with advanced or spreading non-small cell lung cancer (NSCLC) that has specific gene mutations called EGFR or HER2 mutations in certain parts of the gene You have already received standard treatments for your condition You…

Your child is between 3 and 12 years old at the time of joining the trial Your child has been diagnosed with a rare genetic disorder Your child is able to tap on an iPad on their own or by copying someone else, and has adequate hearing (this is checked with a short screening test) Your child speaks fewer than 50 words…

Adults aged 18 or older at the time of signing the consent form (or older if local laws require a higher age of consent). People whose cancer has been confirmed by lab testing of a tissue or cell sample, and whose disease has either spread to other parts of the body or has come back after earlier treatment. People…

You have been diagnosed with advanced or spreading non-small cell lung cancer (a common type of lung cancer) that cannot be treated with surgery or radiation to cure it, and this has been confirmed through a lab test on a tissue or cell sample. Your lung cancer has been tested (either from a tumor sample or a blood…

People who have received or are planning to receive the medication pegcetacoplan to treat a kidney condition called C3G or primary IC-MPGN. People who have signed and dated a consent form agreeing to take part (for children or young people under the legal age, a parent or legal guardian must sign this form, and the…

You must be at least 18 years old (male or female) You must have a rare type of tumour that comes from hormone-producing tissues, such as tumours of the pancreas, pituitary gland, Nelson syndrome, or a tumour that produces a hormone called ACTH from an unusual location in the body (confirm with trial site) You must…

You are between 18 and 70 years old and have been officially diagnosed with Pemphigus Vulgaris (PV) for more than 2 months but less than 10 years. You have a history of a skin biopsy that confirmed your PV diagnosis, or you are willing to have one done during the screening period. You have had at least one occasion in…

You must have already taken part in a previous clinical study of soticlestat, and either completed that study fully, or received at least 10 weeks of the study drug in a placebo-controlled study without experiencing a serious or severe side effect linked to the drug. In the opinion of the doctor running the trial, you…

You are 18 years of age or older You have been diagnosed with bullous pemphigoid (a blistering skin condition), confirmed through skin biopsy, immune staining of the skin, and a blood test Your bullous pemphigoid symptoms are active and scored at a certain level of severity at both your screening and randomisation…

You have been diagnosed with a significant sickle cell condition, including Hemoglobin SS, Hemoglobin S-beta thalassemia, or a related hemoglobin variant You are between 16 and 60 years old You have one or more ulcers on your lower leg or ankle that have not healed for at least 6 months Your liver is functioning…

You have been diagnosed with schizophrenia or schizoaffective disorder, confirmed through a structured clinical interview. You hear voices (spoken speech) at least 5 times per day and can make out what the voices are saying. You are right-handed. You have been on the same antipsychotic medication(s) for at least 4…

You must be 18 years old or older You must have a spinal cord injury in the neck area and depend on a machine to help you breathe Your condition must be medically stable after the spinal cord injury The nerves that control your breathing (phrenic nerves) on both sides of your body must be working at an acceptable…

You must have already completed the full 12-month main study (NCT00171171). Female patients who have had their first period and are sexually active must be using an effective form of birth control, or must have had a procedure such as removal of the uterus and/or ovaries, or tubal ligation. You (and/or your legal…

You must have already completed the full 12-month main part of this study. Female patients who have started their periods and are sexually active must be using two forms of contraception (such as two barrier methods, or a barrier method plus the pill), or must have had a hysterectomy, removal of the ovaries, or tubal…

You have been diagnosed with MPS 7 (Mucopolysaccharidosis type 7), confirmed through a blood, skin cell, or genetic test. Your urine test shows a certain waste product (called glycosaminoglycans) at a level at least 3 times higher than normal for your age. You show clear physical signs of your condition, such as an…

Your lung cancer tumor has been tested in a certified lab and found to have one of these specific genetic changes: EGFR exon 18 G719X, exon 20 S768I, or exon 21 L861Q (having more than one mutation is allowed, as long as one of these is included). You have been diagnosed with Stage 4 non-small cell lung cancer…

Adults aged 18 to 80 years old People who have a confirmed diagnosis of a specific type of Alpha-1 Antitrypsin Deficiency (a genetic condition affecting the lungs and liver), with certain specific genetic types (Pi\ZZ, Pi\SZ, Pi\null, or other rare types known to cause very low or poorly functioning AAT protein…

Siderosis group: Adults aged 18 or older (male or female) who have been diagnosed with a condition called idiopathic superficial siderosis (iSS) — a specific neurological condition — confirmed by a specialist doctor at University College London Hospitals Age-related hearing loss group: Adults aged 18 or older (male or…

You are a child or teenager older than 18 months and younger than 18 years old at the time of surgery Your bones are still growing (you have not reached full skeletal maturity) You have been diagnosed with Osteogenesis Imperfecta (OI), sometimes called "brittle bone disease" Your doctor has already recommended surgery…

You are generally healthy You can be male or female You are between 18 and 65 years old You have occasional sleep problems on average 1 to 2 nights per week, with a sleep quality score above 5 on a standard questionnaire, and this has been happening for the past month Because of your sleep problems, you experience…

People who have a rare condition where the cause has not previously been identified. People who have a known condition that has not improved with standard treatments. People who experienced an unusual harmful reaction as a result of receiving a medication, biological treatment, vaccine, or medical device. Family…

Babies aged 15 months or younger who have received a diagnosis that was not first flagged by a parent's concern — for example, a diagnosis found through prenatal screening, newborn screening, or testing done because another family member was diagnosed. English must be the main language spoken at home, as all the…

A parent, legal guardian, or the patient themselves must be willing and able to give their agreement to take part in the study Both males and females of any age can apply The patient must have a suspected or confirmed diagnosis of SLC13A5 deficiency (a rare genetic condition), meaning they have changes in both copies…

People who have a Mayo Clinic, other health system ID, or another unique identifier on record. People who are able to give their informed consent to participate. People who have been identified by a doctor or genetic counselor as having a rare disease or a suspected genetic condition. People who are a biological…

The person must have a Mayo Clinic, another health system ID, or some other unique identifying number. The person must be able to give their informed consent to participate. The person must have a confirmed or strongly suspected genetic disorder, identified by a doctor or genetic counsellor, with a specific genetic…

Newborn babies born at a hospital that is part of the ScreenPlus pilot program Babies who are less than four weeks old, regardless of whether they are a boy or girl, how early they were born, or their current health condition

People who are suspected of having a rare disease and/or a chromosomal abnormality.

The patient (and/or their parent or legal guardian) must be willing and able to give consent to take part in the study People of any age, both male and female, may be eligible You must have a suspected or confirmed diagnosis of SLC13A5 deficiency (a rare genetic condition), with changes in both copies of the SLC13A5…

Children between 7 and 15 years old People who have been diagnosed with Pervasive Developmental Disorder (PDD), Autism Spectrum Disorder (ASD), or PANDAS People who have certain genetic changes documented in a report from a genetics specialist, such as a mutation, recombination, or other variations that occur during…

People who have three or more long-term physical and/or mental health conditions at the same time, where the main condition is a physical health condition, and/or who have a rare disease or genetic condition. People who do not yet have a clearly identified adult healthcare provider or service lined up after their…

People who have been diagnosed with Idiopathic Pulmonary Fibrosis (IPF) according to international medical guidelines. Doctors who are specialists with significant experience in treating IPF.

People who are having a heart ultrasound (echocardiogram) that a computer program called EchoNet-LVH flags as showing something that may need further attention.

People aged 18 years or older who are willing to sign a consent form to take part. People diagnosed with Marfan syndrome and a thoracic aortic aneurysm (an enlarged blood vessel in the chest), whether they are being monitored or are scheduled for heart surgery. People with a thoracic aortic aneurysm not linked to a…

The patient has been referred to the Genetics Clinic at SickKids or CHEO, and that referral was accepted within 7 days of being checked for study eligibility. The patient is 18 years old or younger. The reason for the referral is a health condition that is suspected to be a rare disease but has not yet been diagnosed.…

The child is at least 1 year old and under 18 years old at the time of joining. The child is not able to take part in making their own end-of-life care decisions. The child has a rare disease as defined by the NIH's Genetic and Rare Diseases Information Center (GARD). The child does not have a Do Not Resuscitate (DNR)…

Haematologists or physicians who specialise in treating haemophilia (in adults or children) and have more than 5 years of experience in this area. People who are able to communicate in English or the language used in their country. People who agree to and sign a consent form before any information is collected. People…

People aged 6 years or older. People who have been diagnosed by a doctor with either Cystic Fibrosis (CF) or Primary Ciliary Dyskinesia (PCD), confirmed using internationally accepted medical standards — this includes specific test results or genetic findings (confirm with trial site for full details). People who live…

You had at least one dose of the medication TEGSEDI within about 6 months before becoming pregnant, or at any point during your pregnancy. You are willing and able to give your consent to take part in the study. You have been diagnosed with a hereditary nerve disease called hATTR-PN during your pregnancy. You have not…

People aged between 21 and 49 years old (inclusive). People who have used cannabis at least once in their lifetime AND have used cannabis three days or fewer in the 28 days before enrolling. People who are able to sign a consent form agreeing to take part. People who are willing to follow all study procedures…

People who are a physician, medical student, or postdoctoral student.

The reason for your illness or condition has not yet been clearly explained by previous genetic or molecular testing (for the retrospective group, meaning people already diagnosed) You have been referred for full genome testing, for example through a recognised genomic medicine programme (for the prospective group…

The inclusion criteria were not detailed in the provided information (confirm with trial site)

People who have been diagnosed with a rare disease, based on clinical findings or genetic testing results People who are suspected of having a rare disease, based on clinical findings or genetic testing results

People aged between 18 and 75 years old. People who have been initially diagnosed with heart failure by a cardiology department and are scheduled to receive medication as part of their treatment. People with no history of structural heart disease, and whose Framingham score (a measure of heart disease risk) is below 5…

You are 18 years of age or older (male or female) You have been diagnosed with a specific type of brain or spinal tumor — such as glioblastoma that has stopped responding to treatment, a certain type of astrocytoma or oligodendroglioma, or other rare primary brain tumors — confirmed by a tissue sample analyzed…

Females aged 11 to 30 years old who have been diagnosed with Turner's syndrome, confirmed by chromosome testing (showing a 45,X pattern or similar) and by a doctor's clinical assessment, before puberty has been started with treatment. People whose bodies are not producing enough estrogen due to ovarian failure…

You have been diagnosed with myasthenia gravis (in any form) by a neurologist. You are being cared for at Lille University Hospital or one of its partner services, or at Amiens University Hospital. Your medical team has confirmed you have no major reasons why adapted physical activity or art therapy would be unsafe…

The practice is a general practice located in the United Kingdom (England, Scotland, Wales, or Northern Ireland) that takes part in Optimum Patient Care services and shares anonymised patient data with the OPCRD database. The practice has at least one patient who has been flagged by a quality improvement program…

You have been diagnosed with one of these rare inherited blood conditions: a type of inherited sideroblastic anemia (CSA), a congenital dyserythropoietic anemia (CDA type I or II), or a form of Diamond-Blackfan anemia (DBA) that does not require regular blood transfusions Your diagnosis has been confirmed by a genetic…

You must be an adult aged 18 years or older You must have been diagnosed with Fabry disease

Adults, adults under legal guardianship, or minors with permission from their legal guardian, where a DNA sample or frozen blood tube is already stored in a molecular genetics laboratory. People being investigated for a condition involving intellectual and developmental difficulties, where the person is either between…

The child has been diagnosed with a rare disease listed in the trial's Table 2. The child is between 8 and 18 years old. The child has enough knowledge of the German language to participate. At least one legal guardian has signed a consent form; for adolescents aged 14 to 17, the young person also provides their own…

People who are 18 years of age or older. People who have been diagnosed with a myeloproliferative neoplasm (such as polycythemia vera, essential thrombocythemia, or low-risk primary myelofibrosis) or chronic myeloid leukemia, confirmed according to World Health Organization standards. People whose condition and…

People who are 18 years of age or older People who have a confirmed diagnosis of Fabry disease People who are being followed at one of the two National Highly Specialized Care centers for Fabry disease in Sweden (Sahlgrenska University Hospital or Karolinska University Hospital) People who are not currently receiving…

Doctors who are licensed to practice medicine at a junior or senior level, and who work in departments related to internal medicine, neurology, pediatrics, or rare diseases. People who are willing to sign a written consent form, follow the trial's rules and procedures, and complete any required training before the…

You are between 18 and 80 years old You have a confirmed diagnosis of a genetic brain blood vessel condition (such as CADASIL, or a condition linked to the COL4A1, COL4A2, or HTRA1 genes), OR a confirmed diagnosis of Moya-Moya disease, cavernoma, cerebral venous thrombosis, or another brain blood vessel malformation…

People of any age can apply; if the person is a child or cannot make decisions for themselves, a parent or legal guardian can sign the consent forms on their behalf. You have an illness or condition that doctors have not been able to diagnose, and it is thought to possibly be a rare disease. You have had at least one…

A diagnosis of primary oral mucosal melanoma that has been confirmed through tissue testing, following World Health Organization criteria. The melanoma started in the mouth, specifically in areas such as the palate, gums, under the tongue, cheek lining, hard palate, or floor of the mouth. Currently receiving or…

For patients: You have been diagnosed with a rare bone or cartilage condition, confirmed (either through genetic testing and/or clinical assessment) by a specialist rare disease centre focused on bone disorders or calcium and phosphate metabolism issues. You are able to have a 3D digital scan taken of the inside of…

Adults aged 18 years or older. People who have been exposed to an infectious disease that is considered emerging or potentially emerging, are at risk of such exposure, are at risk of complications if exposed, or are suspected of having or have been diagnosed with such a disease. People who are receiving, or are…

People who have a confirmed diagnosis of cystinosis, based on at least one of the following: a measurement of cystine levels in white blood cells, the presence of cystine crystals in the cornea of the eye, or a genetic test result. Signed consent from the patient or, where needed, their legal representative must be in…

Adults aged 18 years or older People who have a confirmed diagnosis of vascular Ehlers-Danlos syndrome (vEDS), a rare inherited connective tissue condition People who are currently living in the UK People who are able to give their informed consent to take part People whose condition is considered medically stable —…

People of any age (including children) who are receiving or have previously received care at Mayo Clinic for a rare or undiagnosed condition, and who are able to give informed consent themselves or have a legally authorised representative who can do so on their behalf. People who have already had standard genetic…

People aged 12 to 50 years who have been diagnosed with Friedreich ataxia through genetic testing People who are able to sit or stand on their own for at least 5 minutes People who are able to give informed consent, or, if under 16 years old, able to give assent with a parent or guardian also giving consent People…

People who have been diagnosed with Spinal Muscular Atrophy (SMA) type 1, confirmed through genetic testing, and who were treated with a medicine called OA. People for whom medical records are available from at least one appointment before starting treatment and two appointments after starting treatment. People who…

Children under 18 years old. People with a confirmed or suspected diagnosis of FHL (Familial Hemophagocytic Lymphohistiocytosis) or a related genetic condition that increases the risk of HLH (such as Griscelli Syndrome, Chédiak-Higashi Syndrome, XLP1, or XLP2), or a family history of a condition involving abnormal…

People who weigh at least 40 kilograms at the time of signing the consent forms to participate. People who have previously completed a clinical study involving a treatment called S-606001 for Pompe disease, including those whose assigned treatment group was stopped by the company running the trial.

Babies diagnosed with congenital toxoplasmosis (an infection called Toxoplasma gondii passed from mother to baby) before they are 2.5 months old Pregnant women who show signs of toxoplasma infection, confirmed through clinical observation and testing of the fluid surrounding the baby in the womb Pregnant women who…

You may be eligible if you are 1 month of age or older and have a known or suspected inherited metabolic disorder, genetic condition, or hereditary disease risk. Children between 1 month and 2 years of age (or under 12 kg in weight) may be considered after a review by the pediatric team. Children over 2 years of age…

You are between 5 and 85 years old (inclusive) You are able to give your own informed consent to take part in the study You have been diagnosed with Fabry disease by a doctor You are able to attend all clinic visits and complete all interviews and assessments required during the study You are a Canadian citizen or a…

You have been officially diagnosed with one of these rare kidney conditions: Primary Hyperoxaluria, Dent Disease, Cystinuria, or APRT Deficiency. You have a family history of one of these conditions, meaning a brother or sister has been diagnosed with Primary Hyperoxaluria, Dent Disease, Cystinuria, or APRT Deficiency.

You are 18 years of age or older and able to sign a consent form You have paralysis (not requiring a breathing machine) caused by a spinal cord injury at the mid-neck level or lower, a stroke affecting one side of the body, a traumatic brain injury, or multiple sclerosis, affecting your trunk and/or legs The muscles…

You are older than 4 weeks and have a rare genetic condition whose cause is not yet known You are a family member (such as a parent) of someone with a rare genetic condition, where your genetic information could help researchers understand that condition You are a minor (child) or an adult who has difficulty making…

Anyone over 1 year of age who has a disease or condition being studied, or who is a family member (related or unrelated by genetics) of someone with such a condition Healthy adult volunteers aged 18 or older who agree to have blood or tissue samples taken, studied, and possibly stored for future research People who…

You have been recently diagnosed, or are expected to be diagnosed, with a kidney condition called FSGS, MCD, or MN (or you are a child who has not yet had a kidney biopsy but has one of these diagnoses) Your urine tests show a high level of protein loss (at or above a certain threshold), either measured over 24 hours…

You have a brain tumor (medulloblastoma, ependymoma, ATRT, or another central nervous system tumor) that has come back or continued to grow after previous treatment. Your tumor type was confirmed by a biopsy or tissue sample, either when first diagnosed or when the tumor came back. For one group (Stratum IV), the…

People who have a specific genetic defect — either two copies of the same mutation, or two different mutations — in the TYMP gene, which affects an enzyme called Thymidine Phosphorylase (confirm with trial site) People whose Thymidine Phosphorylase enzyme activity is less than 20% of the normal level (confirm with…

Your child had a body weight that was unusually high for their age (above the 99th percentile on growth charts) before they turned 6 years old, and this was recorded by a doctor

You have been diagnosed with primary hyperoxaluria (PH), confirmed by at least one of the following: a liver biopsy showing abnormal enzyme activity for PH type 1 or type 2; DNA testing showing gene changes known to cause PH type 1, 2, or 3; urine tests showing very high oxalate levels without another known cause; or…

You have been diagnosed with a disease affecting the retina or the layer of blood vessels beneath the retina (called the choroid) in at least one eye

Patients and their blood relatives between the ages of 0 and 99, including women who are pregnant or breastfeeding. (Note: only patients older than 2 years who are in stable health and meet weight requirements will be physically examined at the NIH Clinical Center.) People willing to allow their blood, saliva, and…

People of any age who have been diagnosed with a rare histiocytic disorder (a group of conditions involving abnormal growth of certain immune cells) People whose diagnosis was made from January 1, 1995, up to the present day, including those diagnosed in the future People who were diagnosed either before or after this…

You are willing and able to sign a consent form agreeing to take part in the trial Your cancer can be measured using standard imaging or assessment methods Your cancer has been confirmed by a tissue biopsy to be squamous cell carcinoma (a specific type of cancer cell) of the penis Your cancer has spread to nearby…

You have been diagnosed with, or are being assessed for, a rare disease. You can be a new patient or someone already being seen at the study centre. You can be a child (with baby/milk teeth) or an adult. You can be male or female. You have agreed to take part and signed a consent form (or, for a child, a…

You are 18 years of age or older (male or female) You have been diagnosed with LAM (lymphangioleiomyomatosis) based on recognised medical guidelines You are willing and able to sign and date a consent form agreeing to take part You are currently taking, newly starting, or being considered for mTOR inhibitor…

People who have been diagnosed with Osteogenesis Imperfecta (OI, also known as "brittle bone disease") confirmed through DNA testing People whose medical history and bone X-rays strongly suggest OI, even if it has not been confirmed through lab or DNA testing People of any age who have a specific type of genetic…

You have one or more symptoms or physical signs that doctors have been able to measure or observe You have not been given a diagnosis, even after being seen by specialists about those symptoms or signs You agree to have your personal information and biological samples (such as blood or tissue) shared with other…

People who have signed a consent form (and an additional assent form, if required) People who have had a chest CT scan or chest X-ray showing results that match a condition called PAP (pulmonary alveolar proteinosis) People who have been diagnosed with PAP through at least one of the following: an abnormal blood test…

You have a known or suspected inherited (genetic) eye disease, or you are a healthy family member (usually a close relative) of someone who does. You are able to cooperate with an eye exam that is appropriate for your age. You (or a parent, legal guardian, or authorized representative) are able to understand and sign…

You are an adult aged 18 or older who may have or has been confirmed to have a condition called melorheostosis (a rare bone disease) Both men and women of any ethnic or racial background are welcome to participate Family members of someone with melorheostosis may also be able to join, but only for genetic testing…

You must be older than 1 month of age Pregnant women who have been diagnosed with or are suspected to have the condition being studied, or who become pregnant during the study Pregnant women who are related to someone with the condition (including spouses or partners), but only to donate cord blood and tissue at the…

You are a man who has been diagnosed with prostate cancer You have been tested and confirmed to carry a gene mutation that is linked to an increased risk of prostate cancer OR you have been tested and confirmed not to carry one of these gene mutations

You have been diagnosed with a rare condition that may have a genetic cause, even if doctors are not fully certain of your exact diagnosis, OR you are a family member of someone with such a condition.

You have been diagnosed with primary hyperoxaluria (a rare genetic condition affecting how the body processes oxalate) You have been diagnosed with enteric hyperoxaluria (high oxalate levels in the urine caused by digestive system issues) You have been diagnosed with Dent Disease (a rare kidney condition affecting…

Children who are suspected of having a lung disease called interstitial lung disease (ILD), even if it hasn't been confirmed yet Children who have already been diagnosed with interstitial lung disease (ILD) Children whose condition appears similar to interstitial lung disease but may be something else (confirm with…

Adults between the ages of 40 and 80 (men or women) who have been diagnosed with possible or probable Multiple System Atrophy, Pure Autonomic Failure, or Parkinson's disease, based on recognized medical guidelines. People who experience a significant drop in blood pressure when standing up (a condition called…

People who have been diagnosed with an advanced solid tumour (confirmed by laboratory tissue analysis) and are suitable candidates for drug-based cancer treatment. People who have stored tumour tissue samples (a specific type called FFPE archived tissue) available for molecular testing. People who are 18 years of age…

Your doctor has found that a specific enzyme in your cells (called PDC) is working at a lower level than normal, confirmed through a skin, blood, or muscle sample with proper testing, including a specific gene test (PDHA1) You have a known genetic change (mutation) in a gene linked to a condition called PDC deficiency…

You are 17 years of age or older at the time of signing the consent form You have been diagnosed with cystic fibrosis (CF), confirmed by at least one of the following: a sweat chloride test result, a genetic test showing two known CF gene mutations, or a specific nasal electrical measurement test You have a specific…

You are willing and able to agree to take part in the study and sign a consent form. You have been diagnosed with one of the following specific types of pulmonary hypertension (high blood pressure in the lungs): idiopathic (unknown cause), hereditary (genetic), related to a condition called hereditary hemorrhagic…

You have been diagnosed with one of the following skin cancers, confirmed by a tissue biopsy: Merkel cell carcinoma, advanced basal cell carcinoma that needs treatment with systemic (whole-body) medication, or cutaneous adnexal carcinoma (a rare cancer of the skin's glands or hair follicles)

Children or adults who are suspected of having a rare disease (or a rare form of a common disease) that is thought to be genetic, but where the genetic cause or how the disease works is not yet fully understood Unborn babies (foetuses) who have developmental abnormalities where the genetic cause or how the condition…

Children under 18 years old who have had kidney stones and/or calcium deposits in the kidneys (nephrocalcinosis) Adults over 18 who have had kidney stones and/or calcium deposits in the kidneys, AND at least one of the following: a family history of kidney stones, calcium deposits, or unexplained kidney failure; slow…

You have a brain or nervous system condition that gets worse over time and is caused by a genetic (inherited) reason.

People who are currently receiving dabrafenib, trametinib, or both as part of an existing Novartis or former GSK-sponsored study that has already met its main research goals. People whose treating doctor believes they would benefit from continuing this treatment.

You have been diagnosed with Fabry disease confirmed by a genetic test You are 18 years old or older You are willing and able to sign a consent form agreeing to take part in the trial

You have been diagnosed with, or are suspected to have, a condition called NAGS deficiency (a rare disorder affecting how the body processes protein). You are currently taking a medication called Carbaglu (carglumic acid) to treat NAGS deficiency. You are already enrolled in a separate long-term research study about…

You have been diagnosed with a rare primary headache disorder, specifically one that falls under Chapter 3 or Chapter 4 of an international headache classification system (confirm with trial site for details on which specific headache types qualify) You are willing and able to sign a consent form agreeing to take part…

You must be between 2 and 100 years old. Pregnant women who have a known or suspected medical condition being studied, or who become pregnant while already participating in the trial, may be eligible. Pregnant women who are related to someone with the condition being studied (including spouses or partners) may be able…

You had an unusually good response to a cancer treatment (for example, your cancer went away completely, partly, or stayed stable for at least 6 months). You had an unexpectedly poor response to a treatment that was expected to work well for you (for example, your tumor grew dramatically or you became very unwell…

You have a known or suspected change (variant) in a gene called RUNX1 You have symptoms that suggest a condition called Familial Platelet Disorder (FPD), even if you have not been tested for RUNX1 yet You were previously tested for RUNX1 but the result came back negative, yet you still have symptoms that raise…

People aged 18 or older who have cancer that has spread (metastatic disease), with at least one measurable area of cancer visible on a scan, and whose cancer falls into one of the specific cancer types listed below (confirmed by a tissue biopsy) People diagnosed with one of these specific cancer types: small cell or…

You have been newly diagnosed with a type of T-cell or NK/T-cell lymphoma or leukemia (a cancer affecting certain white blood cells), and have not yet received any treatment for it — specific types include conditions such as peripheral T-cell lymphoma, angioimmunoblastic T-cell lymphoma, anaplastic large cell…

You (or your legal guardian) must be willing and able to give written consent to take part in the study Your condition must be one of the diseases on a specific list chosen by the Solve-RD research team, and the genetic cause of your condition must be unknown or unclear Genetic testing (specifically a type of test…

You are an identical twin (from the same egg) where one twin has noticeably different health or symptoms compared to the other Your doctors are unsure of your exact diagnosis Doctors suspect that one twin's condition may be caused by a genetic change or mutation

You have a solid tumor or lymphoma (either a new diagnosis or one that has come back) that needs to be surgically removed, including cases where the cancer has spread to other parts of the body.

You were 18 years old or older when you were diagnosed with cancer You have been diagnosed with a tumour that had special molecular (genetic) testing done, which found unusual or rare changes in the tumour's genetic makeup You have access to the paperwork or reports from that genetic testing (which may have been done…

You have been diagnosed with a type of cancer called soft-tissue sarcoma, GIST (gastrointestinal stromal tumour), or bone sarcoma (any subtype), confirmed by a tissue sample (biopsy), between January 2005 and June/September 2023 You are 18 years old or older Your medical records and treatment history are available for…

You must be a woman aged 18 to 45 years old at the time of joining the study You must be currently pregnant or have given birth within the last 30 days You must have been diagnosed with a rare blood vessel disease (through physical examination, imaging scans, or lab tests) either before, during, or within one month…

You are 18 years of age or older You have been diagnosed with ALS (either sporadic or familial) that meets specific diagnostic standards set by a leading neurology organization (confirm with trial site) Your ALS symptoms began no more than 24 months ago Your ALS function rating score falls between 34 and 45 on a…

You are 18 years of age or older You have been diagnosed with systemic scleroderma (a connective tissue disease) based on specific medical criteria (ACR/EULAR 2013), OR you have very early signs of the condition, meaning you experience Raynaud's phenomenon (where fingers change colour in the cold) AND have certain…

You are 18 years of age or older You have been diagnosed with an advanced form of lung cancer called "non-squamous non-small cell lung cancer," confirmed through a tissue sample test Your lung cancer has a specific genetic change called an "uncommon EGFR mutation" (this is a less common change in a gene that can…

You are willing and able to give written agreement (consent) to take part, either yourself or through a legal representative. A dermatologist (skin specialist) has confirmed you have a type of pustular psoriasis (PP) — this includes PPP (pustular psoriasis of the palms and soles), GPP (generalised pustular psoriasis)…

People who have been diagnosed with NMDAR encephalitis, meaning they had a rapid change in mental status consistent with autoimmune encephalitis, and a specific antibody (anti-NMDA receptor IgG) was found in their spinal fluid, confirmed by a study-approved laboratory. People aged 12 years or older at the time of…

People of any age who have a congenital (present from birth) or acquired (developed over time) blood disorder People who have unusual or excessive bleeding and score above the normal range on a standard bleeding questionnaire (called the ISTH Bleeding Assessment Tool), even if no diagnosis has been found yet People…

Your baby has been diagnosed with CDH (a condition where organs move into the chest through a hole in the diaphragm) before birth Your baby has no other serious birth defects or chromosomal conditions Your baby is born at full term (after 36 weeks of pregnancy) Your baby is not already part of another…

You have a rare syndrome or a rare condition that you were born with, and you attend the specialist clinic for rare diseases at the Erasmus Medical Center's department of internal medicine and hormone disorders.

Your cancer has been confirmed by a tissue sample (biopsy) and has spread to other parts of the body, which has been seen on scans. Your original (primary) cancer has been treated and there has been no sign of it growing back at that site for at least 3 months. You have between 1 and 5 spots of cancer spread…

You must be willing and able to sign and date a consent form agreeing to take part in the study. You must be willing to have blood drawn and complete all study-related assessments throughout the study. You must be 18 years old or older when you sign the consent form. You must have a rare solid tumor or lymphoma (a…

Adults aged 18 or older who have a brain or spinal cord tumour that has come back (recurred), with the diagnosis confirmed by a laboratory examination of tumour tissue. A wide range of tumour types are included — the trial site can confirm whether a specific tumour type qualifies. People whose tumour has returned and…

Your condition has not been diagnosed, even after thorough testing by doctors, including genetic testing. You have at least one clear, measurable health problem that is likely caused by a genetic (inherited) issue. Doctors believe you may have a newly discovered genetic condition, or a known genetic condition linked…

You are between 18 and 75 years old. You have been diagnosed with calciphylaxis (a serious condition affecting blood vessels and skin), whether or not you have kidney disease or are on dialysis (hemodialysis or peritoneal dialysis). You are willing and able to sign a consent form agreeing to take part in the study.

Adults aged 18 or older with a BMI over 35, OR children under 18 with a very high BMI for their age and sex, who are being seen at one of the participating clinics Patients who are already receiving genetic testing as part of their normal medical care, because they have obesity that started before age 12, a very high…

You have a condition called calciphylaxis, with at least one wound that is open (ulcerated) or has tissue that has died (necrotic) You have end-stage kidney disease and are currently receiving hemodialysis (kidney dialysis) You weigh more than 30 kg (approximately 66 pounds) You are covered by a social security or…

You have a neurological condition (a disorder affecting the brain, nerves, or nervous system) that is known or suspected to be caused by the immune system attacking the body, and this applies to both adults and children. You have up-to-date health insurance or social security coverage.

You have a genetic disease, OR you are a family member of someone with a genetic disease You had genetic testing done between October 2016 and December 2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital in Tübingen, Germany

You have been diagnosed with thalassemia, sickle cell disease, another inherited blood disorder affecting haemoglobin, or another rare inherited anaemia, AND you have also been diagnosed with COVID-19 (confirmed by a virus test).

You have been diagnosed with, or doctors suspect you may have, a soft-tissue or bone sarcoma (a type of cancer affecting soft tissues or bones) You are 12 years old or older You are able to understand what the registry involves and what it means for you personally You are able and willing to sign a written consent…

The cause of your condition has not been clearly identified or explained. Doctors suspect that your condition may be caused by a genetic (inherited) factor.

You have been diagnosed with advanced non-small cell lung cancer (a type of lung cancer that has spread or is at a late stage) Your cancer has been tested and confirmed to have a specific gene change — one of the following: KRAS, ALK, ERBB2, MET, RET, or BRAF mutation (confirm with trial site)

Anyone who has been diagnosed with a condition called stomatocytosis (a rare red blood cell disorder), with no age restrictions Anyone who is covered by the French social security (health insurance) system Anyone who does not object to taking part (or, if they cannot decide for themselves, their legal representative…

You have been diagnosed with a rare type of gastrointestinal (digestive system) cancer that has a specific genetic or molecular feature, such as a BRAF V600E mutation, MSI-H status, HER2 positive status, or similar characteristic Your cancer diagnosis has been confirmed through a tissue or cell sample examination, or…

You are 18 years old or older You have been diagnosed with a very rare inherited (genetic) disease that affects the nervous system and causes it to break down or affects how the body processes energy You have a neurological (brain or nervous system) disease that has not yet been diagnosed, but doctors believe it may…

Small cell carcinoma of the bladder Adenocarcinoma of the bladder Squamous cell carcinoma of the bladder Plasmacytoid urothelial carcinoma Any type of penile cancer Any type of testicular cancer Sarcomatoid renal cell carcinoma (a type of kidney cancer) Sarcomatoid urothelial carcinoma Renal medullary carcinoma Rare…

You must be an adult (18 years old or older) You have symptoms or test results that suggest you may have Sjögren's syndrome, such as dry eyes, dry mouth, joint pain, swollen salivary glands, nerve problems, or kidney or lung issues You are covered by Social Security (French social security system) (confirm with trial…

Children who are 30 months old or younger at the time of joining Children who are in stable general health, with no serious blood, kidney, liver, immune system, or neurological conditions other than Canavan disease (based on the investigator's assessment, medical history, and lab results) Children who have been…

Adults aged 18 years or older. People who currently consider themselves the main caregiver for someone living with a long-term medical condition, OR people who were the main caregiver for someone who has since passed away, OR people who have been identified by another participant as part of a caregiving support…

You have been diagnosed with, or are suspected to have, a skeletal disorder — particularly one that affects phosphate levels, causes unusual bone growth, or has an unknown cause — or you have had a pregnancy affected by skeletal findings You are willing and able to follow the study procedures for the full duration of…

You have been tested for a possible blood disorder, but your diagnosis is still unclear after standard tests Your illness has followed an unexpected or unusual pattern compared to what doctors would normally expect Your condition has not responded to treatment in the typical way, or has been unusually difficult to…

You or your child has been diagnosed with a rare form of epilepsy (based on a specific medical classification system for rare diseases) The people with parental responsibility for the patient have not objected to taking part You or your child is already being seen and followed at one of the hospitals or centres that…

People who have been flagged by an artificial intelligence (AI) computer program as likely having a heart condition called cardiac amyloidosis (a disease where abnormal proteins build up in the heart)

You are 18 years old or older (male or female) You have been diagnosed with non-small cell lung cancer (NSCLC) that has spread locally or to other parts of the body, confirmed by a tissue or cell sample test You have received no more than one previous round of chemotherapy for this cancer Your tumor has been tested…

You have been diagnosed with a rare disease You are strongly suspected of having a rare disease, even without a confirmed diagnosis You are currently being treated in Switzerland or living in Switzerland You are willing and able to sign a consent form agreeing to take part in the trial

You must be a patient who has received heavy particle treatment (a type of radiation therapy) at Fondazione CNAO in Pavia, Italy You must be able to understand and be willing to sign a written consent form agreeing to take part in the study

You have been diagnosed with a rare disease that mainly affects the bones or skeleton

You are at or above the legal age of consent in your country You have been newly diagnosed or have a returning (recurrent) primary brain tumour that falls into one of 17 specific tumour types being studied in this trial A stored tissue sample from your brain tumour surgery is available at the trial site (a sample from…

You are able to understand the study and are willing to sign a consent form agreeing to take part You can read and speak English You are 18 years old or older You are a parent or legal guardian of a child under 18 who has been diagnosed with a RASopathy condition, such as NF1, Noonan Syndrome, Legius Syndrome, CFC…

You must be an adult (18 or older, with no upper age limit) You must be receiving care at the rare autoimmune diseases centre at the CHRU hospital in Brest You must have been diagnosed with a condition called ANCA-associated vasculitis (a type of blood vessel inflammation) by your doctor, following recognised…

You have been diagnosed with a specific type of rare head and neck cancer, including cancers of the nasopharynx, nasal cavity, sinuses, salivary glands, middle ear, lower throat (hypopharynx), back of the throat (oropharynx), voice box (larynx), mouth, or lips — covering particular cancer types within these areas…

You have been diagnosed with chronic kidney disease (CKD) at any stage, including if you have had a kidney transplant or are currently on dialysis You are 18 years old or older You are willing to take part in the study and sign the required consent forms agreeing to participate You are able to participate in a study…

You are a child or adult who has a rare disease where the biological cause or how it works in the body is not fully known or understood. You are already registered in the BaMaRa database, which is the French national database for people with rare diseases. You are covered by the French social security (health…

You have a change (variant) in a gene called ANKRD17, which has been identified in a previous genetic test report, and that variant is classified as "uncertain significance," "likely pathogenic," or "pathogenic" (confirm with trial site if you are unsure of your classification) You have been diagnosed with a condition…

You were diagnosed with type 2 diabetes before puberty or when you were not overweight Multiple family members across generations have diabetes, especially if it started before age 18 Your diabetes affects multiple parts of your body or body systems at the same time You have very little body fat in unusual places (a…

You have a known or suspected sarcoma (a type of cancer) affecting the brain or central nervous system (CNS). You have a known or suspected brain tumor linked to a specific gene change called BCOR. You have a known or suspected brain tumor called Astroblastoma or one linked to a gene change called NM-1. You have a…

You have been diagnosed with a specific type of lung cancer called non-small cell lung cancer (NSCLC), confirmed by a laboratory test of tissue, and your cancer has one of a number of specific rare genetic changes (such as EGFR rare mutations, ALK fusion, ROS1 fusion, BRAF V600E, cMET exon 14 skipping, KRAS G12C, RET…

You are of White European ethnic background. You are willing and able to sign a consent form agreeing to take part in the trial.

People who have been diagnosed with AAT (Alopecia Areata Totalis), whether it occurs on its own or alongside other conditions People who are able and willing to sign a consent form agreeing to take part in the trial

You have been diagnosed with a locally advanced or metastatic cancer (either a solid tumour or a blood cancer) that has been confirmed by a tissue test, and either standard treatments have stopped working, you have chosen not to have standard treatments, or no effective standard treatment exists for your cancer. Your…

You are 18 years of age or older You are willing to sign a consent form before any trial-related procedures begin You are generally active and able to carry out daily activities with little to no limitation (confirm with trial site what this means for your situation) You are covered by a social security or health…

You have been diagnosed with a cancer that has a specific gene change called a "BRAF V600 mutation," confirmed by a type of genetic testing called next-generation sequencing. You are 18 years old or older. You are willing and able to have a small tissue sample (biopsy) taken before treatment starts, as well as blood…

You have been diagnosed with a cancer that tests positive for an ALK gene change, confirmed using an approved genetic testing method. If you are a woman who could become pregnant, you must have a negative pregnancy test before joining and agree to use a highly effective form of contraception (such as the pill…

People who have been confirmed to have a cancer with a high number of genetic mutations (called high TMB, meaning 10 or more mutations per megabase), a specific genetic instability marker (MSI-high), or a hereditary condition called CMMRD — all confirmed using an approved genetic testing method. Women who could become…

You have a cancer (other than non-small cell lung cancer) that has been confirmed to have a specific gene change called a "ROS1 fusion," found through a type of genetic testing called next-generation sequencing. You are willing and able to have a fresh tissue sample (biopsy) taken before treatment starts, as well as…

You or your child has been diagnosed with a rare solid tumor (a type of cancer that forms a solid mass, rather than blood cancer) The person diagnosed was between newborn age and 18 years old at the time of diagnosis (in some cases, young adults may also be able to register — ask the trial site for details) The…

Your cancer must have been confirmed to have a specific gene change called "HER2 amplification" or a related activating mutation, identified through a type of advanced genetic testing. You must be 12 years of age or older. If you are a woman who could become pregnant, you must have a negative pregnancy test before…

You are between 18 and 89 years old at the time you sign the consent form. You weigh at least 110 pounds. Your heart rate is between 50 and 110 beats per minute. Your blood pressure falls within a specific healthy range (diastolic between 50–100 mmHg and systolic between 90–180 mmHg). The medical team has determined…

You are 18 years old or older You are in generally good physical condition and able to carry out everyday activities, and your doctor expects you to live at least 3 more months (confirm with trial site) You have been diagnosed with a specific stage of non-small cell lung cancer (stage IIB–IIIB) that has a particular…

Adults and children who have been diagnosed with a condition called aHUS, which means their blood shows signs of red blood cell destruction, low platelet counts, and kidney failure (confirmed through specific blood tests) Anyone joining must be willing and able to provide written consent (or have a parent/guardian…

Group 1 – Gene therapy received (for a rare genetic disease): You are a parent or caregiver of a child who has received gene therapy, OR you are a patient aged 8 or older who has received gene therapy, OR you are a parent or caregiver of a child who passed away between 6 and 24 months ago after receiving gene therapy…

You are 12 years of age or older You have been diagnosed with a specific type of heart defect (a hole between the upper chambers of the heart, known as an atrial septal defect) and imaging tests (ultrasound or MRI) show that the right side of your heart has become enlarged beyond a certain size Your medical team has…

Your tumor has been tested by a lab and found to have a specific genetic change called a BRAF V600E mutation You have at least one tumor that can be measured on a scan, according to standard medical guidelines You have not previously been treated with the drugs dabrafenib and/or trametinib, OR you took these drugs for…

You are generally able to carry out daily activities, either fully or with some limitations (your doctor will assess this using a standard scale) You have been formally diagnosed through a tissue test with one of these specific cancer types: melanoma, soft tissue sarcoma, head and neck cancer, gynaecological cancer…

People who have unusual physical signs or symptoms that doctors suspect may be caused by a genetic (inherited) condition

You are older than 16 years old and have been diagnosed with Adult-onset Still's Disease using recognised medical diagnostic guidelines (confirm with trial site) You are 16 years old or younger and have been diagnosed with the systemic form of Juvenile Idiopathic Arthritis (a type of childhood arthritis affecting the…

You have been diagnosed with Alport Syndrome, confirmed by at least one of the following: a kidney biopsy examined under a special high-powered microscope, genetic testing, or abnormal results from a skin or kidney tissue test looking at a specific protein called type IV collagen You are willing and able to sign a…

Adults or children who have a confirmed diagnosis of one of these nine rare skin conditions: Inherited epidermolysis bullosa, Ichthyosis, Ectodermal dysplasia, Incontinentia Pigmenti, Neurofibromatosis type 1, Albinism, Pemphigus, Mucous membrane pemphigoid, or Palmoplantar keratoderma. People who are currently being…

You have been diagnosed with a pituitary tumour (a growth on the pituitary gland in the brain) Your case has been reviewed by the national HYPOcare multidisciplinary team meeting (a specialist panel that discusses patient cases) (confirm with trial site)

The baby must be a newborn admitted to the well-baby nursery at one of the participating hospitals The baby must have been born after 33 weeks of pregnancy The baby's parents must speak English, Mandarin, or Spanish

Men and women who are adults and considered healthy You must be willing and able to sign a consent form agreeing to take part Men and women who are adults You have a genetic disease that affects how your genes are read or copied in a specific way (such as certain mutations, deletions, or gene processing errors)…

You are 18 years old or older (male or female) You have been diagnosed with advanced or spreading non-small cell lung cancer (NSCLC), confirmed by a lab test on a tissue or cell sample Your tumor has been tested and found to have a specific, less common change (mutation) in a gene called EGFR You have at least one…

You are a patient being treated with a specific type of growth hormone injection (called polyethylene glycol recombinant human growth hormone) for conditions such as growth hormone deficiency, Turner Syndrome, being born smaller than expected for your gestational age (SGA), unexplained short stature, or similar…

People (both children and adults) who have a rare kidney disease Eligibility depends on which specific rare kidney disease you have, so requirements will vary from person to person (confirm with trial site)

Children aged 8 to 12 years old, or teenagers aged 13 to 18 years old, who have a significant level of visual impairment (as measured by an eye test showing reduced vision in their best eye, even with glasses or contacts) Parents or caregivers of these children and teenagers may also be able to take part

People between 21 and 49 years of age (including those ages) People who have used cannabis at least once in their life, but no more than three days in the past 30 days before joining People who are able to sign a consent form agreeing to take part People who are willing to follow the study's procedures and…

You are a patient attending a urology, sexual medicine, reproductive medicine, or cancer urology clinic You are 18 years old or older You are willing and able to sign a consent form agreeing to take part in the study

People of any age from 0 to 100 years old, both female and male People who have been diagnosed with a rare anaemia disorder (RAD), including Sickle Cell Disease (SCD), Thalassaemia (THAL), Pyruvate Kinase Deficiency (PKD), or other similar rare inherited blood conditions classified under a recognised medical database…

You are being seen by a medical genetics specialist You are having jaw, face, or skull surgery as part of treatment for a condition (which may or may not be genetic) that affects the shape or appearance of your head or face Frontal and side-profile photos of your face are already being taken as part of your normal…

You can be any age, from newborn to 100 years old, and any gender You have been diagnosed with a rare hereditary blood disorder (called a Rare Haematological Disease, or RHD) as listed in the ORPHANET classification system (confirm with trial site) You (or a parent/legal guardian if you are a minor) are willing and…

You took at least one dose of a medication called odevixibat at any point during your pregnancy (starting from one day before becoming pregnant up until the end of the pregnancy) and/or while breastfeeding (up until your baby is 12 months old, or until you stopped breastfeeding, whichever happened first) You are…

You have an ongoing care relationship with the ELHS (Epilepsy Learning Healthcare System) site, meaning you are regularly seen and treated there.

Your tumor's genetic information will be reviewed by a specialist medical team to decide if a personalised treatment option may be suitable for you (confirm with trial site) Eligibility is assessed on a case-by-case basis, based on your individual medical history and the results of your tumor's genetic testing…

You are 18 years of age or older (but under 65) Behçet's disease that does not currently involve life-, organ-, or sight-threatening symptoms, but is considered active based on a standard scoring system or your doctor's assessment (e.g., you need new or additional medication) Dermatomyositis or anti-synthetase…

You have protein or blood in your urine and a kidney biopsy showed no signs of immune-related kidney disease, or your immune-related kidney disease has not responded to treatments like steroids or immunosuppressants You have a family history of kidney disease and/or your parents are blood relatives (related by blood…

You have been diagnosed with Multiple Sclerosis, Parkinson's disease, nerve damage in the legs (peripheral neuropathy), or a rare neurological condition (such as CANVAS or Wilson's disease) You have a neurological condition that has not yet been identified, even after a full medical assessment You are over 18 years…

You have been diagnosed with focal epilepsy, generalized epilepsy, Angelman syndrome, or Dup15q, confirmed by a specialist You have had at least one brain MRI scan that includes a specific type of detailed 3D imaging (called 3D T1) You have had at least one high-definition EEG brain recording using 128…

People of any age (from newborns to the elderly) who are not thought to have a rare disease and can provide a blood spot sample from routine newborn screening (note: for newborns, only leftover blood spot samples are used — no urine sample is needed, and no consent form is required for this group) People of any age…

You have been diagnosed with Baker Gordon syndrome confirmed through genetic testing You are between 0 and 99 years old You are able to share your medical records and test results with the research team You are able to complete tests and questionnaires as part of the study You are 18 years old or older You are the…

You have been diagnosed with a rare disease affecting the sellar region (an area at the base of the brain near the pituitary gland), such as pituitary tumors, craniopharyngiomas, Rathke's cleft cysts, germ cell tumors in that area, cavernous sinus syndrome, or similar conditions You have detailed medical records…

You are any age (child or adult) and have a rare immune system condition involving autoimmunity, abnormal inflammation, or early lymph node/immune cell overgrowth that started before age 18, or runs in families, or is part of a broader syndrome You are a family member (any age, child or adult) of someone with the type…

You are between 3 and 85 years old (male or female) If you have Primary Mitochondrial Disease: You have been diagnosed with this condition confirmed through a specific genetic (DNA) test of your mitochondria If you are a Healthy Volunteer: Your vital signs (such as heart rate and blood pressure) and body weight are…

Your child (born or unborn) is being cared for or was examined after loss at Necker Children's Hospital in the Genomic Medicine for Rare Diseases department, and a DNA sample is available from lung tissue, amniotic fluid, or blood Your child has been found to have a significant genetic change in one of these specific…

You must be able to understand and agree to take part in the study on your own (have the mental ability to give consent) People of any sex, ethnicity, or location can take part Group 1 (Cases): You may qualify if you have a specific gene change that affects the cells in your pancreas that produce insulin (called beta…

You have been diagnosed with aniridia (a condition where the colored part of the eye is missing or underdeveloped) You have been diagnosed with Best disease (an inherited condition that affects central vision) You have been diagnosed with blue-cone monochromacy (a rare color vision disorder affecting how the eyes…

People aged 18 to 65 years old at the time of signing the consent form People who weigh at least 40 kg (about 88 pounds) People who have been diagnosed with X-linked hypophosphatemia (XLH) People whose fasting blood phosphorus level is below a certain threshold at the screening visit (confirm with trial site) People…

You have a rare disease (one that affects fewer than 200,000 people in the United States), whether it has been confirmed by a doctor or is only suspected. Examples include ALS, cystic fibrosis, sickle cell disease, Huntington's disease, Duchenne muscular dystrophy, early-onset Alzheimer's, Ehlers-Danlos syndrome, and…

You are 18 years of age or older You have been diagnosed with one of the following rare liver cancers, confirmed by a tissue sample (biopsy): hepato-cholangiocarcinoma, fibrolamellar hepatocellular carcinoma, epithelioid hemangioendothelioma, or hepatic angiosarcoma Your diagnosis was made on or after January 1, 2018…

Your baby must be a newborn or infant Your baby must have been born at one of the hospitals or birth centres taking part in this study Both parents or legal guardians must have signed a consent form agreeing to take part in the genetic newborn screening Your child must already be taking part in the TREAT-panel part of…

You have a confirmed diagnosis of Congenital Central Hypoventilation Syndrome (CCHS), which means doctors have confirmed you have abnormal breathing during sleep and a specific gene change called a PHOX2B mutation You are any age or gender You are currently being seen and monitored by a medical team for this condition

You have been diagnosed with non-small cell lung cancer (NSCLC) that cannot be removed by surgery and is classified as stage III (using standard staging guidelines). Your lung cancer is either of the "squamous" or "non-squamous" type (these refer to how the cancer cells look under a microscope). Your cancer has been…

You are willing and able to give written consent to take part in the study You are over 18 years old Your doctor suspects you may have a condition called hypophosphatasia (a rare inherited condition that affects bones and teeth) A recent routine blood test has shown that your ALP (alkaline phosphatase, an enzyme…

You must be willing to follow all study procedures and be available for the full length of the study. You must be over 2 years old, either as the main patient being studied or as a close family member (parent, child, or sibling) of that patient. There must be a reason to think your illness may have a genetic cause…

You are male and between 2 and 18 years old at the time of signing the consent form You have been diagnosed with MECP2 Duplication Syndrome (MDS), confirmed by genetic testing and clinical assessment Your seizures have been stable, or you have had no seizures, while on your current treatments (including any…

You are 18 years of age or older. Your tumor tissue test (a lab test called immunohistochemistry) shows a PD-L1 "combined positive score" (CPS) of 10 or higher (confirm with trial site). Your cancer has gotten worse or you could not tolerate the standard treatments that are currently available for your cancer type.…

You have been diagnosed with a rare rheumatic condition by a hospital doctor or specialist, such as lupus, systemic vasculitis, myositis, or Sjögren's syndrome You are able to agree to take part in the study (translation help can be provided if English is not your first language)

People aged 10 years or older. People who have a confirmed or suspected rare disorder that causes abnormal levels of fats (lipids) in the blood, or unusual patterns of fatty buildup in the arteries. People whose lab results or physical presentation, in the opinion of the lead study doctor, would help develop normal…

The participant has been diagnosed with Fragile X Syndrome (FXS), confirmed by a genetic test. The participant is between 13 and 19 years old. The participant can communicate verbally using sentences (enough to take part in group activities). The participant has difficulties with everyday living skills, as measured by…

You are able to understand and sign a written consent form agreeing to take part. You have been diagnosed (confirmed by a tissue or cell sample) with one of these specific cancer types: Paget's disease of the scrotum with sweat gland cancer, paraganglioma, pheochromocytoma, renal angiomyolipoma, malignant perivascular…

People who are able to understand the study and sign a written consent form. People who have been confirmed through biopsy or lab testing to have one of the following cancers: Paget's disease of the scrotum with sweat gland cancer, rhabdomyosarcoma, testicular cancer, penile cancer, or urachal cancer. People whose…

You have been diagnosed with Multiple Osteochondromas through a doctor's assessment and/or genetic testing You are male or female You are between 6 and 17 years old (minors) or between 18 and 40 years old (adults) at the time of joining You or your guardian are able to give proper informed consent to participate You…

You have a confirmed diagnosis of facioscapulohumeral muscular dystrophy (FSHD), myotonic dystrophy type 1 (DM1), or Charcot-Marie-Tooth disease (CMT) You are between 18 and 70 years old at the time of signing the consent form You are of any gender You are able to stand up, rise from a chair, and walk at least 10…

You have symptoms that suggest a spinal fluid leak, such as headaches or other symptoms that get worse when you stand up and improve when you lie down, with or without having had a previous spine procedure You have had imaging (such as an MRI or CT scan) that shows signs of a possible spinal fluid leak You are willing…

Children and teenagers between the ages of 5 and 20 years old (with a developmental age of 5 to 18 years) who have been diagnosed with a rare disease You are already receiving medical care for your rare disease at one of the hospitals or clinics taking part in this study You are willing to take part and have given…

You are a patient (or a relative of a patient) who has been clinically diagnosed with a neuromuscular disorder (a condition affecting the muscles or the nerves that control them) or an eating disorder (confirm with trial site regarding exact conditions covered) Previous genetic testing (such as genome sequencing or…

You have a rare disease yourself, or you are a family member of someone who has a rare disease

You have been diagnosed with a rare Glycogen Storage Disease (GSD), specifically one of these types: GSD 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, or Danon disease Your diagnosis has been confirmed through genetic testing showing one or two faulty gene variants linked to your specific type of GSD (the number…

You or your family member has had a genetic test (called aCGH) that found a change in the amount of genetic material, but doctors are not sure if this change is causing any health problems You or your family member has had genetic tests (called WES and aCGH) that did not give a clear answer or find a definite…

You have been diagnosed with adrenomyeloneuropathy (AMN) confirmed by a genetic test, and you have difficulty moving your legs You are able to communicate normally and can complete questionnaire-based tests on your own You are willing to take part in the study and have given your consent to join You have increased…

Genetic testing (confirmed by the trial's central laboratory) shows a specific mutation in the huntingtin gene — a CAG repeat length of 40 or more. Brain scans show a certain level of shrinkage in a part of the brain called the striatum (caudate), based on age-related measurements linked to an early stage of…

You have been diagnosed with a rare genetic muscle disease and have already had a specialist genetic test (looking at a panel of 200 genes through the FILNEMUS network) carried out at the Molecular Genetics Laboratory at Timone Enfant Hospital since 2017. That genetic test did not find a clear genetic cause to explain…

You have a confirmed genetic diagnosis of Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA), or you are a healthy volunteer (used as a comparison group) You are able to walk at least 25 meters (about 82 feet) on your own, without help If you have DMD: you are currently taking corticosteroid medication…

You have had genetic testing done but no clear genetic cause for your condition has been found You have a genetic diagnosis, but it only explains part of your symptoms or health problems Your genetic testing found one or more gene changes whose meaning or importance is currently unclear Your symptoms closely match a…

You are older than 12 years old, with or without an intellectual disability You have been diagnosed with seizures that have not responded well to medication, a difficult-to-control epilepsy condition, or a rare form of epilepsy You have had one or more types of seizures in the past that have been identified and…

You have been diagnosed with the condition that this trial site is specifically focusing on, confirmed by a doctor or standard diagnostic criteria (confirm with trial site for the specific condition) You are within the age range that this trial site is looking for (confirm with trial site for the specific age range)…

You are male You have a confirmed change (mutation) in the SLC6A8 gene You are between 5 and 35 years old Your first/native language is French You (and/or your parents or legal guardian) have agreed and signed the consent form You (or your parents/legal guardian) are covered by the French national health insurance…

Adults aged 18 or older who wish to take part voluntarily Parents (mothers or fathers) of a child with an intellectual disability and/or autism spectrum disorder where the genetic cause is known — this includes conditions caused by a single gene change or by missing or extra sections of genetic material (called copy…

You are an expectant parent whose unborn child will receive care at one of the participating maternity units At least one parent or legal guardian has been given information about the study You are willing to allow your data to be used in the study You are covered by, or entitled to benefits from, a social security…

You are 18 years old or older You are either male or female You have been diagnosed with a rare brain tumor (one that affects fewer than 6 in every 100,000 people per year) You are scheduled to have open brain surgery (craniotomy) to treat your rare brain tumor You are a native Italian speaker, as the thinking…

You have had head and neck cancer in the past, but currently have no active cancer. You previously received radiation therapy to one or both sides of your neck, with a dose of 30 Gray (Gy) or higher. You have developed at least moderate swelling (lymphedema) or tissue tightening (fibrosis) in the neck area, starting…

Anyone between the ages of 0 and 90 years old People who a specialist doctor suspects may have a rare or genetic disease, based on their symptoms or test results (for example, features that match a known genetic syndrome, a muscle or nerve condition, or a heart condition like hypertrophic or dilated cardiomyopathy)…

People who have been diagnosed with a rare inherited blood vessel disorder of the brain — specifically one of the following conditions: CADASIL, Fabry's disease, COL4A1-related disorder, Sneddon's syndrome, or Moyamoya arteriopathy — where the diagnosis was made through clinical assessment, genetic testing, or brain…

You are 18 years of age or older Your doctors expect you to live for at least 6 months or more You are generally able to carry out daily activities with little to no limitation (confirm with trial site regarding the specific fitness level required) You have been diagnosed with Merkel cell carcinoma (a rare type of…

You are 19 years of age or older and are willing and able to give written consent to take part. You have been diagnosed with cardiomyopathy (a disease affecting the heart muscle) and doctors suspect it may be caused by a genetic (inherited) reason, but the exact cause is unknown. You have cardiomyopathy and no clear…

You have taken part in the PICO Study, or meet the criteria listed below You were diagnosed with PKU through a newborn screening test You started a low-phenylalanine (Phe) diet within the first 30 days of life You are 18 years old or older You are willing and able to give written consent to take part You are 18 years…

People who have been confirmed to have a MET-positive cancer, identified through a type of advanced genetic testing (called next-generation sequencing) that detects specific MET changes in the cancer. People who are 18 years of age or older. Women who could become pregnant may be considered, provided they have a…

You must be at least 6 years old (there is no upper age limit) You must speak French If the patient is a child, a parent or legal guardian must give their consent to participate You must have French health/social security coverage Vision or hearing problems that cannot be corrected with glasses or hearing aids, making…

Adults aged 18 or older, including those who are planning to become pregnant People who are willing and able to read and understand the consent forms People who have been diagnosed with one of the following rare eye diseases (a specific diagnosis for each condition is required, sometimes including genetic testing)…

Adults aged 18 or older People who are currently being seen by the rheumatology or endocrinology clinics at the CHUL (CHU de Quebec-Université Laval) People who have been diagnosed with osteoporosis People who have access to the internet

Children and young people aged 0 to 18 years who have been diagnosed with or are being treated for a very rare type of tumor, either for the first time or after it has come back. The patient, and/or their parent or legal guardian, must have given written agreement to take part in the trial.

You are a man being seen at Brigham and Women's or Faulkner urology clinic for fertility problems, specifically a condition where no sperm are found in your semen (confirmed through semen tests, a physical exam, and hormone tests) You are a man having a microsurgical procedure at Brigham and Women's Hospital to try to…

You can be any gender, and any age from newborn to 99 years old You (or your child) have been diagnosed with intellectual disability and/or low muscle tone (floppiness) that started in the newborn period, and are being seen at one of the three hospitals involved in this study You (or your child's parent or guardian)…

Your baby is between 0 and 90 days old and has not yet received a diagnosis Your baby shows signs or symptoms that doctors strongly suspect may be caused by a genetic condition Babies with a wide range of different symptoms or physical findings may be considered

You must be 18 years of age or older. You must have a confirmed diagnosis of a specific type of lung cancer (non-squamous non-small cell lung cancer) with particular genetic changes called "EGFR uncommon mutations," verified by a lab test — this includes at least one uncommon EGFR mutation, but excludes certain common…

You are 18 years old or older and weigh at least 40 kilograms (about 88 pounds) at the time of signing the consent form. You have been diagnosed with late-onset Pompe disease (LOPD), confirmed either by a test showing low levels of a specific enzyme (GAA) or by genetic testing. Your lung function (breathing capacity)…

You are at least 6 years old, of any gender, and have been diagnosed with Duchenne Muscular Dystrophy (DMD) confirmed by a genetic test, and have been prescribed oral givinostat by your doctor. You (and/or your parent or guardian, if applicable) have agreed to take part in the study by signing a consent form. Your…

You are an adult, which in most US states means aged 18 to 90 (aged 19–90 if you live in Alabama or Nebraska; aged 21–90 if you live in Mississippi or Puerto Rico). You have read and signed a consent form agreeing to take part in the study, or if you have difficulty making decisions, a legally authorised…

The participant must have been clinically diagnosed with CD55-deficient CHAPLE disease, as defined by the trial protocol. The participant's parent(s) or legal guardian(s) must be willing and able to attend clinic visits and follow all study procedures, including ensuring the participant completes the full series of…

People who have been diagnosed with cancer and referred for high-throughput genetic sequencing (a detailed type of DNA testing) People for whom a specialist multidisciplinary tumor board (a group of cancer specialists who review cases together) has approved the use of genome, exome, and RNA sequencing since January 1…

You are between 18 and 55 years old (inclusive) at the time of signing the consent form. You are on standard treatment for high triglycerides but your fasting triglyceride levels have not consistently dropped below 10 mmol/L (880 mg/dL) — shown by at least three separate blood test results above this level before…

Your first symptoms of Friedreich's Ataxia (FA) started when you were 25 years old or younger You have been diagnosed with FA through both a clinical assessment and genetic testing Your level of disability from FA falls within a specific range on a standard FA rating scale (a score of 1 or higher but less than 6 on…

You have been diagnosed with a condition called immune-mediated TTP (a blood disorder where the immune system causes dangerous blood clots to form in small blood vessels)

Sickle cell disease Thalassemia (a group of inherited blood disorders) Congenital dyserythropoietic anemia (a rare inherited condition affecting red blood cell production) An enzyme disorder affecting red blood cells (confirm with trial site) An abnormal hemoglobin (the protein in red blood cells that carries oxygen)…

You are 18 years of age or older and have been diagnosed with a widespread form of Myasthenia Gravis (a muscle weakness condition) that has been confirmed through a specific blood test showing certain antibodies (called AChR antibodies). You are willing and able to sign and date a consent form agreeing to take part in…

You have signed a consent form agreeing to take part You are 18 years old or older You are covered by a social security (health insurance) scheme (For the "cases" group) You have been referred for joint inflammation (arthritis) or inflammation of a fluid-filled sac near a joint (bursitis) linked to a rare autoimmune…

People who are willing and able to sign a written consent form agreeing to take part People aged 18 or older People who have been diagnosed with an advanced tumour confirmed by tissue or cell testing, along with imaging, and whose tumour tests positive for a protein called HER2 (HER2 score of 1+ or higher on a…

People who have given written consent before any study procedures begin People aged 18 years or older People who are generally well enough to carry out light activity or normal daily tasks (a health rating of 0 or 1 on a standard scale), whose health has not declined in the 2 weeks before joining, and who are expected…

You are a parent or main caregiver of a child who has been diagnosed (or is suspected to have) a very rare genetic condition that started in childhood. The child is under 21 years old at the time of joining the study. The child is expected to live for at least one more year after joining the study. You are a patient…

You have been diagnosed with, or are suspected to have, a condition affecting the brain or nervous system that has a genetic cause You are any age (from newborn to 99 years old) You have no history of any neurological (brain or nervous system) disorder You are over 18 years old You are the legal caregiver of someone…

You have had a cardiac MRI (a special heart scan) since 2010 and doctors suspect you may have a rare heart muscle disease.

You are a caregiver of a child between 0 and 4 years old who has been diagnosed with a rare genetic condition The child you care for has been receiving physiotherapy (physical therapy) for at least 6 months You are willing to take part and agree to participate by signing a consent form You are able to read and…

You must be 18 years old or older when you sign up. You must have been diagnosed with a type of blood condition called a myeloproliferative neoplasm (MPN), which includes: polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), secondary myelofibrosis (post-ET or post-PV MF), pre-fibrotic…

You have a genetic change in one of the CAMK2 genes that has been confirmed or is likely to be harmful You are willing to have your information recorded anonymously in a national or international database

You must be able to give your own consent to take part in the study You have been diagnosed by a doctor with an idiopathic inflammatory myopathy (a condition where the immune system attacks the muscles, causing inflammation), OR you are a caregiver or parent of someone who has this condition You may also be eligible…

You have an advanced brain or central nervous system (CNS) tumor that has come back, confirmed by a pathology (tissue) report — this includes certain types of returning brain tumors such as high-grade gliomas or other CNS tumors. You are already scheduled to have a brain tumor biopsy or surgical removal (resection) at…

You have signed a consent form agreeing to take part in the trial You are able to speak, read, and write in Italian

You have been diagnosed with one of the following conditions: a skull growth condition linked to FGFR signaling (a gene pathway), achondroplasia or hypochondroplasia (types of dwarfism), osteogenesis imperfecta (brittle bone disease), or Pierre Robin sequence (a condition affecting jaw and airway development) You have…

You have been diagnosed with a cancer or condition (including Langerhans cell histiocytosis) that has a specific gene change called BRAF V600, confirmed using an advanced genetic testing method. You are at least 1 year old and weigh at least 8 kg (about 17.6 lbs). If you are a woman who could become pregnant, you must…

You are willing and able to sign a consent form agreeing to share your health data, both past and future. You are aged 12 or older (note: in Italy and France, you must be 18 or older). You have been diagnosed with a condition called Homozygous Familial Hypercholesterolemia (HoFH) — a serious inherited condition…

You have been diagnosed with cancer, confirmed by a tissue or cell sample test; some cancer types that can be identified by scans or specific markers (such as certain liver cancers or eye melanomas) may also qualify without a tissue or cell sample test. Your cancer has been treated with the goal of curing it (for…

You are currently between 15 and 25 years old and were born between 1997 and 2007 You have a rare genetic disease that was confirmed by a genetic test, started in childhood, and is being followed at Necker hospital under one of these specialist disease centres: epilepsy without learning difficulties, skin genetic…

People who are willing and able to give written consent before any trial procedures begin (for younger participants, a parent or legal guardian must also give written consent, and the participant may need to give their own agreement depending on local rules) People who are willing to follow all trial requirements for…

You took at least one dose of a medication called elafibranor either within three weeks before becoming pregnant or at any point during your pregnancy. You previously took part in this program during an earlier pregnancy and took elafibranor around the time of or during that new pregnancy — you may be able to enroll…

You are 18 years old or older You are able to read and sign a consent form agreeing to take part in the study You have at least 10 of your own natural teeth You belong to one of the following groups: you have Alport syndrome (confirmed by genetic testing or medical diagnosis); you have Fabry disease (confirmed by…

People who are 6 years old or older. People who have been diagnosed with primary hyperoxaluria type 1 (PH1) through genetic testing. People whose urine tests show oxalate levels outside certain limits, based on at least two 24-hour urine collections. People who, if taking vitamin B6, have been on a stable dose for at…

You are an adult aged 18 years or older, OR a young person between 4 years and 6 months old and 18 years old You have been diagnosed with a rare autoinflammatory disease (a condition where the immune system mistakenly causes inflammation in the body) You are currently being treated at the Hospices Civils de Lyon…

You must be a male adult. You must be between 18 and 45 years old. You must weigh between 50 kg (about 110 lbs) and 100 kg (about 220 lbs). Your Body Mass Index (BMI) must be between 18.5 and 32 (a measure of body weight relative to height). You must have a confirmed diagnosis of Fragile X syndrome, proven through…

People who are 18 years of age or older at the time of signing the consent form. People who are able to understand and are willing to sign a consent form before any study-related activities take place. People who are willing and able to attend study visits and follow the study requirements. People who have a confirmed…

You are between 1 and 18 years old You have been officially diagnosed with epilepsy that has not responded well to treatment (known as refractory epilepsy), confirmed using recognised medical guidelines You have had at least 4 seizures during a 4-week observation period before the trial starts, and these seizures did…

People who are 18 years of age or older. People who have been diagnosed with a kidney tumor. People who had an MRI scan of the kidney taken before surgery, and that scan is available for review. People who have a matching pathology report that confirms the tumor type and, where relevant, its grade (how aggressive it…

Boys between 18 months and 8 years old Boys who have been diagnosed with X-linked adrenoleukodystrophy (a genetic condition) through blood tests or DNA testing, but who do not yet have symptoms Boys whose platelet count (a measure of certain cells in the blood that help with clotting) is within the normal range

You are 18 years of age or older (male or female) You took part in the previous related study called PRISM I10E-1302 and showed improvement — specifically, your disability score improved by at least 1 point by the end of that study You are covered by a national health insurance system, as required in your country You…

You are a man or woman aged 18 or older. Your LDL cholesterol levels (the "bad" cholesterol) and medical history match the diagnosis of a severe inherited cholesterol condition called homozygous familial hypercholesterolemia (HoFH), whether or not you have already received treatment for it. Genetic testing has…

Adults aged 18 or older, OR children/teenagers aged 2 to under 18 who weigh at least 10 kg (about 22 lbs) Adults diagnosed with late-onset Tay-Sachs disease or Sandhoff disease caused by specific gene mutations (HEXA or HEXB genes) Children/teenagers or adults diagnosed with certain related conditions, including…

You are a man or woman aged 18 or older. You have been diagnosed with, or are strongly suspected to have, a serious invasive fungal infection caused by mold, such as Aspergillus or similar fungi (for example, Fusarium, Mucor, or Rhizopus). Your current standard antifungal treatments are not working well, cannot be…