Gaucher Disease
Plain English clinical trial information, updated daily from ClinicalTrials.gov and public government registries. Not medical advice.
How these figures are counted
- Trials on record is every trial tagged to this condition at any stage, except those withdrawn before starting or terminated early. Most are completed rather than ongoing, so this is a measure of research history, not of current activity. It is also smaller than the sitewide "trials tracked" figure, which does include withdrawn and terminated trials.
- Recruiting now counts only trials whose registry status is "Recruiting". Trials listed as not yet recruiting or enrolling by invitation are excluded, so this understates how many may open to new participants soon.
- Australian sites counts trials counted under "Recruiting now" that list at least one Australian site. A site being listed does not mean it is currently enrolling, and Australian trials registered only on ANZCTR are not counted yet, so this understates local availability.
- Phase 3 trials counts trials counted under "Recruiting now" that are at Phase 3.
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Voxsanity currently covers 103 conditions. We are expanding coverage regularly.
Understanding Gaucher Disease
Gaucher disease is a rare inherited condition where the body does not produce enough of a particular enzyme called glucocerebrosidase. This enzyme is responsible for breaking down a fatty substance in the body. When it cannot do its job properly, that substance builds up inside cells, particularly in organs like the spleen, liver, and bone marrow. This buildup can cause a range of symptoms, which vary quite a bit from person to person. Some people experience fatigue, bone pain, an enlarged spleen or liver, or changes in blood counts, while others may have very mild symptoms for many years.
Gaucher disease is one of the most common lysosomal storage disorders in Australia, though it is still considered rare. It affects people of all backgrounds, but is more frequently seen in people of Ashkenazi Jewish heritage. It is estimated that only a few hundred Australians are living with the condition at any one time. Because it is so uncommon, most people are diagnosed and managed through specialist clinics, often connected to major hospitals in larger cities.
The good news is that for most people with Gaucher disease, effective treatments are available. The two main approaches used in clinical practice are enzyme replacement therapy, which involves regular infusions that supply the body with the enzyme it is missing, and substrate reduction therapy, which works by reducing the amount of fatty substance the body produces in the first place. Not everyone requires treatment, particularly those with very mild symptoms. A specialist doctor will assess the individual situation carefully and discuss what options make sense. Regular monitoring and check-ups are an important part of managing the condition over time.
This overview is an AI generated summary written from public medical sources and checked on a sample basis. It is general information, not medical advice or a diagnosis. Always speak with your doctor about your situation. How we use AI
Can you access treatment for Gaucher Disease in Australia right now? Here's what's publicly known.
- No PBS-subsidised medicines are currently mapped for Gaucher Disease on Voxsanity. Your doctor or pharmacist can advise on what may be available.
- 3 clinical trials currently recruiting at Australian sites for Gaucher Disease.
Information on this site does not constitute medical advice. Data is sourced from publicly available government registries. Always consult your doctor before making any health decisions. Trial status should be verified directly with the trial site.
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Become a founding memberResearch pipeline
Where trials for Gaucher Disease currently sit in the development pipeline. The funnel shape shows how few drugs reach later phases in general; the counts are this condition's actual trial numbers.
Most active research sponsors
Organisations with the most recruiting trials for Gaucher Disease.
Where trials are running
Clinical trial sites for Gaucher Disease by country. Australia is highlighted.
Clinical trials for Gaucher Disease
Showing 29 of 29 trials
The plain English eligibility text on each trial below is an AI generated summary of the official criteria, checked on a sample basis. How we use AI
🇦🇺 NCT00705939 · Pfizer Phase 3 · 8 countries
Who might be able to join this trial: - You have already successfully completed the related study called Protocol PB-06-001 - You are willing and able to give your written agreement (consent) to take part in this trial Who may not be able to join: - You are currently taking another experimental or investigational drug...
🇦🇺 NCT00712348 · Pfizer Phase 3 · 6 countries
**Who might be able to join this trial:** - You are male or female, aged 2 years or older - You have been diagnosed with Gaucher disease, confirmed through a specific enzyme activity test - Your Gaucher disease is currently stable - You have been receiving treatment with imiglucerase (Cerezyme®) for at least 2 years, a...
🇦🇺 NCT00943111 · Genzyme, a Sanofi Company Phase 3 · 12 countries
**Who might be able to join this trial:** - You (and/or your parent or legal guardian) are willing and able to sign a consent form before any study activities begin - You are at least 18 years old at the time of joining the study - You have a confirmed diagnosis of Gaucher disease type 1 - You have been receiving enzym...
🇦🇺 NCT01074944 · Genzyme, a Sanofi Company Phase 3 · 17 countries
**Who might be able to join this trial:** - You are 18 years of age or older. - You have been diagnosed with Type 1 Gaucher disease, confirmed by a blood or tissue test showing low levels of a specific enzyme called acid β-glucosidase. - Your blood test results at screening meet certain minimum levels: hemoglobin (a m...
🇦🇺 NCT00358943 · Genzyme, a Sanofi Company Not Applicable · 52 countries
"Who might be able to join this trial: **For the main Gaucher Registry:** - You have been confirmed to have Gaucher disease, proven either by a blood test showing low levels of a specific enzyme (called β-glucocerebrosidase) or by a genetic test showing a change in the related gene - You have given the appropriate per...
🇦🇺 NCT05487599 · Prevail Therapeutics Phase 2 · 6 countries
**Who might be able to join this trial:** - You are 18 years old or older at the time you give your consent to join the study. - You have been confirmed (by central testing) to have two faulty copies of the GBA1 gene, which causes Gaucher disease. - You have been taking an enzyme replacement therapy (ERT) or substrate...
🇦🇺 NCT07223944 · Spur Therapeutics Phase 3 · 10 countries
**Who might be able to join this trial:** - You are 18 years old or older at the time of screening - You have been diagnosed with Gaucher disease type 1 - Your hemoglobin (a measure of red blood cells) levels have been stable recently - Your platelet count (cells that help blood clot) has been stable recently - You hav...
NCT00029965 · National Human Genome Research Institute (NHGRI) Not Applicable · 1 country
Here is the eligibility information in plain English: **Who might be able to join this trial:** - You may be eligible if you have been diagnosed with GM1 gangliosidosis, GM2 gangliosidosis, sialidosis, or galactosialidosis, confirmed by a certified laboratory test showing an enzyme deficiency or a gene mutation **Who...
NCT01962415 · Paul Szabolcs Phase 2 · 1 country
Who might be able to join this trial: - A suitable donor match is available — either a cord blood unit (from a blood bank) or a matched unrelated bone marrow or blood stem cell donor that meets specific matching and cell count requirements. - Your kidneys are working well enough, shown by blood test results within acce...
NCT02437396 · University of Minnesota Not Applicable · 1 country
Who might be able to join this trial: - You must be 18 years old or older. - You must be able to understand what the study involves, be willing to follow its requirements, and sign a consent form agreeing to take part. - You must have Gaucher disease and be considered healthy enough to participate, in the opinion of th...
NCT03190837 · Duke University Not Applicable · 1 country
"Who might be able to join this trial: - You have been diagnosed with Gaucher Disease Who may not be able to join: - You do not have a diagnosis of Gaucher Disease Important: Always verify eligibility with the trial site directly before applying."
NCT03240653 · Cambridge University Hospitals NHS Foundation Trust Not Applicable · 1 country
**Who might be able to join this trial:** - You have a confirmed diagnosis of Type I, Type II, or Type III Gaucher disease - You (or your parent or legal guardian) have given written agreement to take part, as approved by an ethics committee - You can be male or female, and there is no age limit for this trial - You ar...
NCT03291223 · Shire Not Applicable · 1 country
Who might be able to join this trial: - You have been diagnosed with Gaucher disease, confirmed through blood tests and/or genetic testing, and you can be any age or gender. - You (or your parent/legal guardian if you are under 18, or under 16 in the UK) are willing and able to sign a consent form agreeing to take part...
NCT03333200 · University of Pittsburgh Not Applicable · 1 country
Who might be able to join this trial: - You have a brain or nervous system condition that gets worse over time and is caused by a genetic (inherited) reason. Who may not be able to join: - There are no listed reasons that would prevent someone from joining this trial. Important: Always verify eligibility with the tri...
NCT03721068 · UNC Lineberger Comprehensive Cancer Center Phase 1 · 1 country
**Who might be able to join this trial:** - A parent or legal guardian has signed the required privacy and authorization forms - The patient is well enough to carry out some daily activities, based on standard health scoring scales used for children or adults - The patient is expected to live for at least 12 weeks - T...
NCT04101968 · Pacific Parkinson's Research Centre Not Applicable · 2 countries
Who might be able to join this trial: - You carry a specific genetic variation in a gene called GBA (for example, the p.L444P or p.N370S variant), meaning you have one changed copy of this gene - You are between 18 and 80 years old Who may not be able to join: - You have been diagnosed with another neurological (brain...
NCT04528355 · Paul Szabolcs Not Applicable · 1 country
**Who might be able to join this trial:** - The patient, their parent, or legal guardian must be willing and able to sign a written consent form. - The patient must be between 2 months and 60 years old at the time of signing consent. - The patient must have a non-cancerous condition that can be treated with a stem cel...
NCT04532047 · University of California, San Francisco Phase 1 · 1 country
**Who might be able to join this trial:** - The pregnancy is between about 18 weeks and nearly 35 weeks along, and the baby is alive - The unborn baby has been diagnosed with one of 8 specific rare storage diseases (called lysosomal storage disorders, or LSDs) through pregnancy testing such as amniocentesis, CVS, or s...
NCT04637503 · Shenzhen Geno-Immune Medical Institute Phase 2 · 1 country
**Who might be able to join this trial:** - Your tumor has already received the standard first-line treatment but cannot be surgically removed, has spread to other parts of the body, has continued to grow, or has come back. - Your tumor must test positive for certain proteins called GD2, PSMA, and CD276, as confirmed...
NCT05253560 · Shaare Zedek Medical Center Not Applicable · 1 country
Who might be able to join this trial: - You are willing to take part in the study Who may not be able to join: - People who have been diagnosed with Parkinson's disease - People who have been diagnosed with dementia Important: Always verify eligibility with the trial site directly before applying.
NCT05536388 · New York Stem Cell Foundation Research Institute Not Applicable · 1 country
Who might be able to join this trial: - You are 18 years of age or older. - You have been diagnosed with Parkinson's disease, Gaucher disease, or you are a healthy person willing to participate as a control. - You are able to give written consent to take part, or if you have a physical limitation that prevents you from...
NCT05586243 · University of Minnesota Not Applicable · 1 country
**Who might be able to join this trial:** - You must be 18 years old or older. - You must be able to understand the study requirements and be willing to follow them, and you must be able to sign a written consent form agreeing to take part. - You must have a condition called GD3 and be considered healthy enough to part...
NCT05619900 · University of California, San Francisco Not Applicable · 1 country
Who might be able to join this trial: - People aged 0 to 64 years old who have been diagnosed with a lysosomal storage disease (a type of inherited condition where the body cannot break down certain substances properly) - Pregnant people whose unborn baby has been diagnosed with a lysosomal storage disease Who may not...
NCT05843552 · University of Minnesota Not Applicable · 1 country
Who might be able to join this trial: - You must be between 18 and 80 years old. - You must fall into one of three groups: someone with Gaucher disease (GD) who has not yet received treatment, someone who carries the gene change linked to GD but does not have the condition themselves, or a healthy person without the GD...
NCT05992532 · Fundación Española de Hematología y Hemoterapía Not Applicable · 1 country
**Who might be able to join this trial:** - You are an adult (any sex) - You have an enlarged spleen (felt by a doctor as sticking out at least 1 cm below the lower edge of your rib cage), OR you have had your spleen removed for reasons not linked to a specific diagnosed condition, OR you have a low platelet count (wit...
NCT06151002 · University College London Hospitals Not Applicable · 1 country
**Who might be able to join this trial:** - You have been formally diagnosed with Parkinson's Disease by a doctor **Who may not be able to join:** - You have been tested and found to carry a specific gene change called a GBA variant — if this applies to you, you may be directed to a related study called RAPSODI instea...
NCT06162338 · He Huang Not Applicable · 1 country
**Who might be able to join this trial:** - You are between 18 and 60 years old (male or female) - You are willing and able to understand what the study involves, including possible side effects, and sign a consent form - You have been diagnosed with Type 1 Gaucher disease, confirmed by lab tests showing two mutations...
NCT06272149 · Xinhua Hospital, Shanghai Jiao Tong University School of Medicine Early Phase 1 · 1 country
**Who might be able to join this trial:** - Your child must be 24 months old or younger. - Your child must have been diagnosed with Gaucher disease, confirmed by a specific enzyme test and genetic testing showing changes in both copies of the GBA1 gene. - Your child must show signs or symptoms of the neurological form...
NCT06818838 · Lingyi Biotech Co., Ltd. Phase 2 · 1 country
**Who might be able to join this trial:** - You are between 18 and 60 years old (male or female) - You are willing to fully understand what the study involves and sign a consent form agreeing to take part - You have been confirmed through lab testing to have two mutated copies of the GBA1 gene, with a significant redu...
Advocacy and support in Australia
Organisations that can offer information, support, or connection for Gaucher Disease. Where more than one is listed, they serve different needs or regions, so choose whichever fits your situation.
No dedicated Australian organisation currently exists for Gaucher disease specifically. Rare Voices Australia can point you toward broader rare disease resources.
This is a starting point, not medical advice or an endorsement. Contact details change; search the organisation name to find its current website.