Phenylketonuria
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- Trials on record is every trial tagged to this condition at any stage, except those withdrawn before starting or terminated early.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 It is also smaller than the sitewide "trials tracked" figure, which does include withdrawn and terminated trials.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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Understanding Phenylketonuria (PKU)
Phenylketonuria, usually called PKU, is a rare inherited condition that affects the way the body processes a building block of protein called phenylalanine. In people with PKU, the body cannot break phenylalanine down properly, so it builds up to levels that can affect the brain and development. PKU is caused by changes in a gene that is passed down from both parents, meaning a child can have PKU even if neither parent shows any signs of the condition themselves. It is not contagious and is not caused by anything a parent did or did not do.
In Australia, PKU is detected very early through the newborn screening program, which tests babies shortly after birth using a small heel prick blood sample. This means most people in Australia are diagnosed in the first days or weeks of life, well before any symptoms can develop. PKU affects roughly one in every 10,000 to 15,000 babies born in Australia, so while it is uncommon, there are established specialist services and support networks available across the country.
Because phenylalanine is found in almost all protein-containing foods, managing PKU generally centres on carefully controlling what a person eats. This typically involves limiting foods that are high in natural protein, such as meat, fish, eggs, dairy, nuts, and regular bread, while using specially formulated low-protein foods and medical formula to make sure the body still gets the nutrients it needs. Some people may also be eligible for other forms of treatment, which a specialist metabolic team will discuss based on individual circumstances. Regular monitoring through blood tests helps track phenylalanine levels over time. Most people with PKU in Australia are supported by a team that includes metabolic physicians, dietitians, and other health professionals.
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 Phenylketonuria in Australia right now? Here's what's publicly known.
- 16 PBS-subsidised medicines are mapped to Phenylketonuria on the Pharmaceutical Benefits Scheme, listed below. Your doctor can advise whether a PBS-subsidised option is appropriate for you.
- 4 clinical trials currently recruiting at Australian sites for Phenylketonuria.
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.
PBS-subsidised medicines for Phenylketonuria
16 medicines listed on the PBS for Phenylketonuria. Filter by authority type, or open the full table below.
Full PBS medicines table 16 listed
These medicines are listed on the Pharmaceutical Benefits Scheme (PBS) for the specific indications shown. A listing does not mean a medicine is right for you; your doctor decides what is appropriate. Prices shown are the PBS-determined dispensed price. Most patients pay only the standard co-payment, up to AU$25.00 per script (general) or AU$7.70 (concession or Safety Net) in 2026, with the Australian Government subsidising the rest.
Source: Pharmaceutical Benefits Scheme (PBS), © Commonwealth of Australia. Data used and redistributed under permission; not modified from its original wording where displayed verbatim.
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Become a founding memberResearch pipeline
Where trials for Phenylketonuria 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 Phenylketonuria.
Where trials are running
Clinical trial sites for Phenylketonuria by country. Australia is highlighted.
Clinical trials for Phenylketonuria
Showing 31 of 31 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
🇦🇺 NCT05099640 · PTC Therapeutics Phase 3 · 15 countries
**Who might be able to join this trial:** - Your blood phenylalanine (Phe) levels must be 360 or above (on a specific measurement scale) both at the screening visit and on average across your three most recent test results. - You must have a confirmed diagnosis of phenylketonuria (PKU), with at least two past blood te...
🇦🇺 NCT06302348 · PTC Therapeutics Phase 3 · 6 countries
**Who might be able to join this trial:** - Women who could become pregnant must have a negative pregnancy test at the start of the study and agree to use effective birth control throughout the study and for at least 90 days after the last dose. - Participants must be willing to stick to their prescribed daily diet fo...
🇦🇺 NCT06628128 · Otsuka Pharmaceutical Development & Commercialization, Inc. Phase 3 · 2 countries
**Who might be able to join this trial:** - You have been diagnosed with phenylketonuria (PKU), confirmed by genetic testing or blood test results - You are 4 years old or older at the time of initial screening - You have not taken the medication pegvaliase in the 4 weeks before screening - You have not taken the medi...
🇦🇺 NCT06971731 · Otsuka Pharmaceutical Development & Commercialization, Inc. Phase 3 · 10 countries
Who might be able to join this trial: - Adults aged 18 or older who have been diagnosed with PKU (phenylketonuria) - People whose blood phenylalanine (Phe) levels average 360 μmol/L or higher (measured after fasting for more than 4 hours) during the screening period - People who have not used the medication pegvaliase...
🇦🇺 NCT07446400 · Otsuka Pharmaceutical Development & Commercialization, Inc. Phase 1 · 1 country
Who might be able to join this trial: - Your Body Mass Index (BMI) is between 18 and 35 (a measure of body weight relative to height) - You are male or female (assigned at birth), of any gender identity — note that one part of the trial (Arm 1) only recruits biological females who cannot become pregnant - You are in go...
NCT01659749 · Emory University Not Applicable · 1 country
Who might be able to join this trial: **For people with a metabolic condition:** - You have been diagnosed with PKU (phenylketonuria) or another amino acid disorder (a condition affecting how the body processes certain proteins) - You are female - You are 11 years old or older - You are able to give your consent to ta...
NCT04404530 · Emory University Not Applicable · 1 country
**Who might be able to join this trial:** - You are 16 years of age or older - You have been diagnosed with PKU (phenylketonuria), either through newborn screening or through a diagnosis later in life - You are able to give your own consent to take part in medical tests and procedures - You have a prescription for Paly...
NCT04896281 · Chang Gung Memorial Hospital Not Applicable · 1 country
Who might be able to join this trial: - You have a high illness severity score (called APACHE II) of 15 or more, which means you are seriously unwell (confirm with trial site) - You are expected to stay in the intensive care unit (ICU) for more than 48 hours - You have a certain protein breakdown product in your blood...
NCT05128149 · University Children's Hospital, Zurich Not Applicable · 1 country
**Who might be able to join this trial:** - You are 10 years old or older and have been diagnosed with PKU (phenylketonuria) that requires dietary treatment, medication, or both, based on your local medical guidelines - You are a parent of a child aged 10 to 18 years who has PKU requiring dietary treatment, medication,...
NCT05579548 · BioMarin Pharmaceutical Not Applicable · 4 countries
**Who might be able to join this trial:** - You (or someone legally authorized to speak for you) must agree to take part before joining, following any rules required in your country - You must currently be pregnant, or have recently been pregnant (including if the outcome of the pregnancy is not yet known, or if you h...
NCT05813678 · BioMarin Pharmaceutical Not Applicable · 3 countries
**Who might be able to join this trial:** - You have been officially diagnosed with PKU (phenylketonuria) according to your local doctor's standard practice - You are currently receiving, or are planning to start receiving, a treatment called pegvaliase within 30 days of signing up for the study (this includes people w...
NCT06061614 · The First Affiliated Hospital of Bengbu Medical University Early Phase 1 · 1 country
**Who might be able to join this trial:** - You are willing to voluntarily sign a consent form to take part in the study. - You have been diagnosed with Phenylketonuria (PKU) confirmed to be caused by a specific gene mutation in the PAH gene. - You are 18 years old or older. - Your blood phenylalanine (Phe) level has...
NCT06289348 · Assistance Publique - Hôpitaux de Paris Not Applicable · 1 country
**Who might be able to join this trial:** - You are a parent or doctor of a child who has been screened for PKU (a rare inherited condition that affects how the body processes protein) during the study's enrollment period - This must be your family's first experience with PKU — meaning the child who was screened must b...
NCT06305234 · BioMarin Pharmaceutical Not Applicable · 1 country
Who might be able to join this trial: - You are already taking part in a related study called the 165-501 study at a US location. Who may not be able to join: - You are not legally able to make your own decisions and do not have a legal guardian to represent you. - You are not willing or not able to give your consent...
NCT06332807 · NGGT INC. Phase 2 · 1 country
**Who might be able to join this trial:** - You are willing and able to sign a consent form agreeing to take part, or someone legally authorised can sign on your behalf - You have been diagnosed with "classic PKU," a specific form of phenylketonuria caused by certain gene mutations that mean your body produces little...
NCT06337864 · Rigshospitalet, Denmark 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 Classical PKU (a condition affecting how the body processes a substance called phenylalanine), confirmed either through genetic testing showing two faulty copies of a specific gene, or through historical blood te...
NCT06560736 · University of Missouri-Columbia Not Applicable · 1 country
**Who might be able to join this trial:** - The participant must be a young person between 10 and 17 years old, and at least one parent or guardian must also take part - The young person must have a formal diagnosis of PKU (a condition affecting how the body processes a protein called phenylalanine), identified through...
NCT06687733 · NGGT (Suzhou) Biotechnology Co., Ltd. Phase 2 · 1 country
**Who might be able to join this trial:** - You are willing to take part and have signed the consent form agreeing to join the study - You have been diagnosed with PKU caused by having two faulty copies of the PAH gene (confirmed by genetic testing) - You are an adult between 18 and 55 years old - Your blood phenylala...
NCT06718842 · Cairo University Not Applicable · 1 country
Who might be able to join this trial: - Children who have been diagnosed with PKU (Phenylketonuria, a condition affecting how the body processes a certain protein) - Children who are considered obese (significantly overweight) - Children who have been diagnosed with fatty liver disease that is not caused by alcohol (al...
NCT06941532 · Nutricia UK Ltd Not Applicable · 1 country
Who might be able to join this trial: - Both males and females can participate - You must be older than 3 years of age - You must have been diagnosed with PKU (a condition affecting how the body processes a substance called phenylalanine) or tyrosinaemia (a condition affecting how the body processes another substance c...
NCT06969209 · Insel Gruppe AG, University Hospital Bern Not Applicable · 1 country
**For people with PKU (Phenylketonuria):** Who might be able to join this trial: - 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...
NCT07220265 · University of Missouri-Columbia Not Applicable · 1 country
**Who might be able to join this trial:** - You are between 18 and 60 years old - For the PKU carrier group: You are a parent of someone with PKU, or you have been confirmed through genetic testing to be a carrier of PKU (for example, a sibling of someone with PKU who has had genetic testing) - For the non-carrier grou...
NCT07241234 · Agios Pharmaceuticals, Inc. Phase 1 · 2 countries
**Who might be able to join this trial:** - You have been diagnosed with PKU and genetic testing shows you carry two specific gene changes in the PAH gene, with at least one being a change called R408W (this will be confirmed by the trial's own lab during the screening process). - At least once in the past year, a blo...
NCT07477691 · BioMarin Pharmaceutical Phase 4 · 1 country
**Who might be able to join this trial:** - You are between 18 and 65 years old - You have been formally diagnosed with phenylketonuria (PKU) - You are generally in good health based on a medical check-up - You are willing and medically suitable to take both Palynziq and methotrexate (MTX) during the study - *(Cohort A...
NCT07484945 · University Hospital, Tours Not Applicable · 1 country
"Who might be able to join this trial: - You must be 18 years old or older and have been diagnosed with PKU (Phenylketonuria) - Your PKU must have been found through a newborn screening test (the routine blood test done shortly after birth) - You must have taken part in and completed the final visit of a previous study...
NCT07526909 · Hacettepe University 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 classic PKU (phenylketonuria) - You are not currently active in sports - You do not have any other existing health conditions - You do not currently have any infection - Your BMI (a measure of body weight relativ...
NCT07672756 · Chongqing Peg-Bio Biopharm Co., Ltd. Phase 1 · 1 country
**Who might be able to join this trial:** - You are between 18 and 55 years old (inclusive), of any sex - You have previously been diagnosed with phenylketonuria (PKU), a condition affecting how your body processes a substance called phenylalanine - Your blood phenylalanine (Phe) level was 600 µmol/L or higher at your...
NCT07685210 · Changchun GeneScience Pharmaceutical Co., Ltd. Phase 1 · 1 country
Who might be able to join this trial: - Men and women between 18 and 45 years old, with at least 3 participants of each gender included in the study groups. - People with a body mass index (a measure of body weight relative to height) between 19 and 26, where men weigh at least 50 kg and women weigh at least 45 kg. - P...
NCT07694440 · Maze Therapeutics Phase 2 · 1 country
Who might be able to join this trial: - Adults aged 18 to 75 years, of any gender, may be considered for this trial - People who have been clinically diagnosed with PKU (phenylketonuria) may be eligible - Participants must be willing and able to keep their diet and protein intake consistent throughout the study - For c...
NCT07698743 · Central Hospital, Nancy, France Not Applicable · 1 country
Who might be able to join this trial: - People who are already being followed or treated for PKU (Phenylketonuria) at Nancy University Hospital - People who are willing to take part in the trial Who may not be able to join: - People who are not willing to take part in the trial Important: Always verify eligibility wi...
NCT07728032 · Birmingham Women's and Children's NHS Foundation Trust Not Applicable · 1 country
Who might be able to join this trial: **Children and teenagers with PKU:** - Children and teenagers aged 3 to 17 years old - People who were diagnosed with phenylketonuria (PKU) through newborn screening - People who are currently receiving ongoing medical care for PKU - For the diet-only group: people whose PKU is ma...
Advocacy and support in Australia
Organisations that can offer information, support, or connection for Phenylketonuria. Where more than one is listed, they serve different needs or regions, so choose whichever fits your situation.
The Metabolic Dietary Disorders Association (MDDA) supports people with PKU and related metabolic disorders. The PKU Association of NSW is PKU specific and, although NSW based, has members across Australia.
This is a starting point, not medical advice or an endorsement. Contact details change; search the organisation name to find its current website.