Phenylketonuria (PKU) Clinical Trials
20 recruiting trials for Phenylketonuria (PKU). Eligibility criteria explained in plain English.
Recruiting Trials
Clinical trial data sourced from the ClinicalTrials.gov registry, maintained by the National Library of Medicine. Always consult your doctor before considering any clinical trial.
Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?
Treatment of PKU implies for most patients that with strict adherence to dietary treatment they can achieve excellent neurocognitive outcome. Dietary treatment, though, is hard to...
Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria
The overall aim of this study is to evaluate LNAA treatment as a potential alternative to conventional dietary treatment for PKU. This study investigates the effects of LNAA...
Phe for Me? The Effects of L-Phe on PKU Carriers and Non-carriers
This is a clinical intervention study of PKU carriers (cases) and non-carriers (controls). Upon completing the informed consent process, participants will complete baseline...
Safety and Efficacy Study of NGGT002 in PKU Adult Subjects
This is a single-center, open-label, non-randomized, dose escalation study to evaluate the safety, tolerability and efficacy of NGGT002 in adult Phenylketonuria (PKU) subjects....
A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)
This is a 10-year multi-center, global, observational study to further characterize the safety profile of pegvaliase, including hypersensitivity reactions, long-term safety and...
AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic...
A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)
This is a 10-year multi-center, prospective, longitudinal, single arm study evaluating immunologic, inflammatory and laboratory parameters associated with long-term Palynziq...
Brain Aging in Phenylketonuria
Background: Historically, the primary goal in managing phenylketonuria (PKU) has been to prevent severe and irreversible intellectual disability, as well as to address nutritional...
A Study to Evaluate the Safety and Efficacy of JNT-517 in Participants With Phenylketonuria (PKU)
The goal of this Phase 3, randomized study is to assess the safety, efficacy, tolerability, and pharmacokinetics (PK) of oral JNT-517 in adults (18 years of age or older) with...
A Phase 2 Study of JNT-517 in Adolescent Participants With Phenylketonuria
The goal of this Phase 2, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of oral JNT-517 in adolescents (12 to less than 18 years of age) with...
A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During...
This is a Phase 4 observational study designed to assess the impact of Palynziq ® (pegvaliase) treatment in pregnant women with PKU and on their offspring who were exposed to...
Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
The goal of this clinical trial is to advance our understanding of the cognitive and neurophysiologic sequelae associated with suboptimal phenylalanine (Phe) metabolism in...
Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and...
The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about their disease and...
Walking Program in Fatty Liver Children With Phenylketonuria
phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. PKU is usually associated with many...
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment is initiated in...
Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited metabolic disorder that impairs the metabolism of the essential amino acid phenylalanine (Phe). Without stringent dietary control, Phe...
Development of Novel Psychological Assessment Tools and Anxiety Intervention for Phenylketonuria
While previous PKU intervention research has largely focused on pharmacological treatment of elevated Phe levels, the adaptation of evidence-based psychosocial therapy holds...
Safety and Efficacy Study of NGGT002 in cPKU Adult Subjects
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic...
GMP Powdered Substitutes in PKU and TYR
Four new GMP-based protein substitutes have been developed to support the dietary management of PKU and TYR. These products are powdered protein substitutes, low in phenylalanine...
Phenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICU
Hyperphenylalaninemia is not only present in patients with congenital phenylketonuria. In adults with critical illness, hyperphenylalaninemia is noted in some patients and is...
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Frequently Asked Questions
There are currently 20 clinical trials for Phenylketonuria (PKU), with 20 actively recruiting participants. These include trials across all phases from early-stage Phase 1 to late-stage Phase 3.
To join a clinical trial for Phenylketonuria (PKU), review the eligibility criteria on the trial detail pages, then talk to your doctor about whether a trial is right for you. Your doctor can help you evaluate the potential benefits and risks.
Phase 3 trials are large-scale studies that test whether a treatment is effective and monitor side effects. There are 2 Phase 3 trials for Phenylketonuria (PKU), representing treatments closest to potential FDA approval.
Clinical trials follow strict safety protocols overseen by Institutional Review Boards (IRBs) and the FDA. Participants are monitored closely and can withdraw at any time. Always discuss risks and benefits with your healthcare provider before enrolling.
Trial data sourced from the ClinicalTrials.gov API. This site does not provide medical advice — always talk to your doctor about clinical trial participation.