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Phenylketonuria (pku) Clinical Trials

Reviewed by TrialFinderData Editorial Team · Updated

26 recruiting trials for Phenylketonuria (pku). Eligibility criteria explained in plain English.

TrialFinderData lists 26 Phenylketonuria (pku) clinical trials drawn from ClinicalTrials.gov, all of which are currently recruiting participants.

Across the trials that carry a phase, Phase 3 is the largest group at 33% (3 studies); the largest phase groups are Phase 3: 3, Phase 1: 2, Phase 1 / Phase 2: 2, Early Phase 1: 1.

Research is led by BioMarin Pharmaceutical (4), Otsuka Pharmaceutical Development & Commercialization, Inc. (3), Emory University (3), among the most active sponsors registered for these trials.

The most frequently studied intervention is Pegvaliase (drug, 4 trials), followed by Methotrexate, NGGT002.

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.
26
Total Trials
26
Recruiting Now
3
Phase 3 Trials
10
Sponsors

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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.

RECRUITINGPhase 1NCT07446400

A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine,...

The purpose of this study is to assess the drug-drug interaction (DDI) of repinatrabit with ethinyl estradiol/norethindrone or norethisterone (EE/NE), metformin, rosuvastatin,...

Sponsor: Otsuka Pharmaceutical Development & Commercialization, Inc.Enrolling: 481 location
RECRUITINGNCT05813678

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...

Sponsor: BioMarin PharmaceuticalEnrolling: 45020 locations
RECRUITINGNCT04404530

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...

Sponsor: Emory UniversityEnrolling: 452 locations
RECRUITINGNCT06305234

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...

Sponsor: BioMarin PharmaceuticalEnrolling: 20011 locations
RECRUITINGNCT07220265

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...

Sponsor: University of Missouri-ColumbiaEnrolling: 361 location
RECRUITINGPhase 3NCT06628128

A Long-Term Study of JNT-517 in Participants With Phenylketonuria

The goal of this Phase 3, open-label study is to evaluate the long-term safety of JNT-517 in pediatric and adult participants with Phenylketonuria (PKU) after completion of either...

Sponsor: Otsuka Pharmaceutical Development & Commercialization, Inc.Enrolling: 24012 locations
RECRUITINGPhase 3NCT06302348

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...

Sponsor: PTC TherapeuticsEnrolling: 568 locations
RECRUITINGEarly Phase 1NCT06061614

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....

Sponsor: The First Affiliated Hospital of Bengbu Medical UniversityEnrolling: 151 location
RECRUITINGPhase 4NCT07477691

Immune Modulation During Palynziq® Treatment in Adults (IMPALA)

Study 165-401 is a Phase 4, open-label study designed to examine the concomitant use of methotrexate (MTX) to suppress immune responses to Palynziq and improve tolerability and...

Sponsor: BioMarin PharmaceuticalEnrolling: 1212 locations
RECRUITINGNCT05579548

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...

Sponsor: BioMarin PharmaceuticalEnrolling: 504 locations
RECRUITINGNCT06337864

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...

Sponsor: Rigshospitalet, DenmarkEnrolling: 302 locations
RECRUITINGNCT01659749

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...

Sponsor: Emory UniversityEnrolling: 2001 location
RECRUITINGNCT07194993

PKU Protein Requirements

The objective of this research is to determine the protein requirements based on genotype and medical food consumption in a sample of adults with Phenylketonuria (PKU) using the...

Sponsor: Emory UniversityEnrolling: 181 location
RECRUITINGPhase 1 / Phase 2NCT06332807

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...

Sponsor: NGGT INC.Enrolling: 125 locations
RECRUITINGPhase 3NCT06971731

A Study 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...

Sponsor: Otsuka Pharmaceutical Development & Commercialization, Inc.Enrolling: 12020 locations
RECRUITINGPhase 1NCT07241234

A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With...

The primary purpose of this study is to assess the safety and tolerability of AG-181 in subjects with Phenylketonuria (PKU).

Sponsor: Agios Pharmaceuticals, Inc.Enrolling: 204 locations
RECRUITINGNCT06560736

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...

Sponsor: University of Missouri-ColumbiaEnrolling: 301 location
RECRUITINGPhase 1 / Phase 2NCT06687733

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...

Sponsor: NGGT (Suzhou) Biotechnology Co., Ltd.Enrolling: 182 locations
RECRUITINGNCT06289348

Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.

The aims of this collaborative, interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare, serious disease present...

Sponsor: Assistance Publique - Hôpitaux de ParisEnrolling: 801 location
RECRUITINGNCT06969209

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...

Sponsor: Insel Gruppe AG, University Hospital BernEnrolling: 901 location
RECRUITINGNCT07526909

Effect of Different Meal Types Given Before Exercise on Plasma Amino Acid Levels and Metabolic Control Parameters in...

This study will be the first in the literature to evaluate the relationship between aerobic and resistance exercises, plasma amino acid levels, metabolic control of patients, and...

Sponsor: Hacettepe UniversityEnrolling: 101 location
RECRUITINGNCT05128149

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...

Sponsor: University Children's Hospital, ZurichEnrolling: 2001 location
RECRUITINGNCT07484945

Multiomics Approach in Adult Patients With Phenylketonuria

The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.

Sponsor: University Hospital, ToursEnrolling: 14915 locations
RECRUITINGNCT06941532

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...

Sponsor: Nutricia UK LtdEnrolling: 401 location
RECRUITINGNCT06718842

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...

Sponsor: Cairo UniversityEnrolling: 401 location
RECRUITINGNCT04896281

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...

Sponsor: Chang Gung Memorial HospitalEnrolling: 1001 location

Frequently Asked Questions

There are currently 26 clinical trials for Phenylketonuria (pku), with 26 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 3 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.

Sources: ClinicalTrials.gov, FDA
Last updated:

Trial data sourced from the ClinicalTrials.gov API. This site does not provide medical advice, always talk to your doctor about clinical trial participation.