Clinical trials
Phenylketonuria clinical trials
Below are recruiting phenylketonuria clinical trials, each written for real people, not researchers. We’re tracking 32 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT06687733RecruitingPhase 1/Phase 2
Gene therapy for phenylketonuria
This trial tests a new gene therapy, NGGT002, which delivers a healthy gene to help people with phenylketonuria (PKU) manage their phenylalanine levels. It may reduce the need for strict diet control.
Bengbu, AnhuiAges 18–55 - NCT06302348RecruitingPhase 3
Study of Sepiapterin for People with Phenylketonuria (PKU)
This trial tests an oral medication called sepiapterin for people with phenylketonuria (PKU) to help lower high blood Phe levels. It may be a good fit if you follow a protein-restricted diet and have had some recent Phe control.
Indianapolis, IndianaAges Up to 9 years - NCT04404530Recruiting
Study nutrition changes from Palynziq in adults with PKU
This study looks at how taking Palynziq affects your nutrition and health in people with phenylketonuria (PKU). You might benefit by getting careful monitoring while researchers learn how the medicine changes diet-related measurements.
Atlanta, GeorgiaAges 16 years+ - NCT07698743Recruiting
Eating disorders in phenylketonuria patients study
This study looks at eating habits and disorders in people with phenylketonuria (PKU) who are treated at a specific hospital in Nancy, France. Participating involves sharing information, which may help doctors better understand eating challenges in PKU.
NancyAges Any age - NCT05128149Recruiting
PKU care guidelines and how they affect daily well-being
This study looks at whether following specific care guidelines for phenylketonuria (PKU) leads to better metabolic control (blood phenylalanine levels) and better patient well-being. You may be asked to complete questionnaires and follow the study plan while receiving the usual PKU treatment your clinic recommends.
ZurichAges 10 years+ - NCT06289348Recruiting
How is PKU announced to families after newborn screening?
This study talks to parents or doctors about how they first learned their child had PKU through newborn screening. It aims to improve how these rare metabolic diseases are communicated to families.
ParisAges 18 years+ - NCT06337864Recruiting
Large neutral amino acids for adults with classical PKU
This study tests whether a specific mix of large neutral amino acids (LNAAs) can help adults with classical PKU by lowering phenylalanine levels in the brain. It includes an MRI and PET scan to see how the treatment affects brain activity.
CopenhagenAges 18–50 - NCT06560736Recruiting
Anxiety help for teens with PKU
This study tests a brief therapy program designed to help teens with PKU manage anxiety or depression symptoms. It aims to see if this approach can prevent or treat these issues in this group.
Columbia, MissouriAges 10–17 - NCT06971731RecruitingPhase 3
JNT-517 pill for adults with PKU
This trial tests a new pill called JNT-517 to see if it can lower high blood phenylalanine (Phe) levels in people with PKU. You may be a good fit if you have PKU, are at least 18, and can stick to a steady diet.
Los Angeles, CaliforniaAges 18 years+ - NCT06628128RecruitingPhase 3
Long-term study of JNT-517 for people with PKU
This study tests a new medicine called JNT-517 for people with phenylketonuria (PKU) over a long period. It aims to see if the drug can help manage PKU safely and effectively.
Gainesville, FloridaAges 4 years+ - NCT06718842Recruiting
Walking program for children with PKU and fatty liver
This study tests whether a walking program can help children with PKU who also have fatty liver and obesity. It aims to see if regular walking improves liver health and overall fitness.
Dokki, Giza GovernorateAges 9–12 - NCT06969209Recruiting
Brain aging in adults with PKU
This study looks at how the brain ages in adults with PKU. It uses an MRI scan to compare brain changes between people with PKU and healthy volunteers.
BernAges 18 years+ - NCT07241234RecruitingPhase 1
Study of an experimental drug for phenylketonuria (PKU)
This trial tests an investigational drug (AG-181) for people with PKU who have a specific genetic change (R408W mutation). It aims to check if the drug is safe and how it works in your body.
Indianapolis, IndianaAges 18–69 - NCT01659749Recruiting
Support and nutrition programs for women with PKU
This study looks at how educational, social support, and nutrition help affect pregnancy outcomes and quality of life in women with PKU. It may help you better manage PKU-related needs before and during pregnancy.
Atlanta, GeorgiaAges 11 years+ - NCT07484945Recruiting
Multiomics study in adults with phenylketonuria
This study looks at adults with phenylketonuria (PKU) using advanced testing (called multiomics) to understand how the condition affects the body. If you took part in a previous PKU study (ECOPHEN) and are willing to give a saliva sample for DNA analysis, this trial may be for you.
AngersAges 18 years+ - NCT07672756RecruitingPhase 1
Testing PL54 injection for adults with PKU
This study tests a new injection called PL54 to see if it is safe and tolerable for adults with phenylketonuria (PKU), a condition where the body cannot break down an amino acid called phenylalanine. It is designed for people with high blood phenylalanine levels and may offer a new treatment option.
Hefei, AnhuiAges 18–55 - NCT07526909Recruiting
Meal Types and Exercise Effects in Phenylketonuria
This study looks at how different meals eaten before exercise affect amino acid levels and metabolic health in adults with classic phenylketonuria (PKU)—a genetic condition affecting how your body processes protein. The research involves eating test meals, exercising, and providing blood samples to help understand the best nutritional approach for PKU patients.
Ankara, AnkaraAges 18 years+ - NCT06940193Enrolling by invitation
Egoo Phe home test for phenylalanine levels in PKU
This study tests a new home blood test (Egoo Phe) for measuring phenylalanine levels in people with PKU, as well as in healthy adults. It aims to see if it is accurate and easy to use.
BirminghamAges Up to 3 years - NCT07551921Recruiting
Blood Test Validation for Phenylketonuria Monitoring
This study tests a new fingerstick blood test (PheCheck™) designed to help monitor phenylketonuria (PKU), a rare condition affecting how the body processes a protein called phenylalanine. If you or your child has PKU and are already being monitored for it, this study may help improve how your care team tracks the condition.
Chicago, IllinoisAges 1 year+ - NCT07694440RecruitingPhase 2
Study of MZE782 in Adults With PKU
This study tests a new oral medication (MZE782) for adults with PKU. It looks at how safe and effective the drug is, and it requires you to keep your diet stable for the entire study.
Oakland, CaliforniaAges 18–75 - NCT07713758RecruitingPhase 1
How the body handles repinatrabit with liver or kidney issues
This trial checks how repinatrabit is processed in people with moderate liver problems or severe kidney problems compared to healthy adults. It helps doctors understand if the dose should be adjusted for these conditions.
Miami, FloridaAges 18–65 - NCT07220265Recruiting
PKU carriers: How high phenylalanine affects the brain
This study looks at how carrying one copy of the PKU gene might affect thinking and brain health in adults. It will help researchers understand if mild changes in a substance called phenylalanine can impact memory, focus, and brain scans.
Columbia, MissouriAges 18–60 - NCT07728032Recruiting
How diet and medicine affect gut health in PKU children
This study looks at how a phenylalanine-restricted diet or certain PKU medicines affect gut health in children with PKU. It also includes healthy siblings or household members as a comparison group.
Birmingham, BirminghamAges 3–17 - NCT07703020Enrolling by invitation
Obesity in PKU patients
This study looks at how common obesity is in adults with PKU and what factors may contribute to it.
Lausanne, Canton of VaudAges 18 years+
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Phenylketonuria trials by city
Studies with a site in or near these metro areas.
Phenylketonuria trials by state
Studies with a site anywhere in these states.
Common questions
- Are there clinical trials for phenylketonuria?
- Yes. Clin2 currently lists 32 recruiting phenylketonuria studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a phenylketonuria trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a phenylketonuria trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.