Clinical trials: Phenylketonuria
Phenylketonuria
First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria
The goal of Parts A and B of this Phase 1/2, first-in-human, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of single (SAD) and multiple (MAD) ascending doses of oral JNT-517 in healthy…
- Trial name
- NCT05781399
- Testing
- JNT-517 Suspension, JNT-517 Tablet
- Where
- 15 sites in United States, Australia
- Volunteers
- 163 people, healthy volunteers welcome
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Phenylketonuria
Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria
The purpose of this study is to assess the safety and tolerability of injections of rAvPAL-PEG in subjects with PKU.
- Trial name
- NCT00634660
- Testing
- rAvPAL-PEG
- Where
- 8 sites in United States
- Volunteers
- 25 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias
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 Phenylketonuria (PKU).
- Trial name
- NCT06332807
- Testing
- NGGT002
- Where
- 5 sites in United States
- Volunteers
- 12 people
- Sponsor
- NGGT INC.
BH4 Deficiency, Hyperphenylalaninemia
A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia
This study has been designed to demonstrate the safety, pharmacokinetics (PK) and preliminary efficacy of PTC923 (CNSA-001) in reducing blood phenylalanine concentrations in participants with hyperphenylalaninemia due to primary…
- Trial name
- NCT03519711
- Testing
- PTC923
- Where
- 4 sites in United States
- Volunteers
- 8 people
- Sponsor
- PTC Therapeutics
Phenylketonuria (PKU)
Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria
This is a Phase 3 open-label randomized controlled study enrolling approximately 54 adolescents with PKU. The study is designed to assess the safety and efficacy of pegvaliase injections.
- Trial name
- PEGASUS (NCT05270837)
- Testing
- Pegvaliase, Diet Only
- Where
- 16 sites in United States, Germany
- Volunteers
- 55 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias
A Prospective Clinical Study of Phenylketonuria (PKU)
This is a study for adults and children ≥ 14 years old who have Phenylketonuria (PKU) with uncontrolled plasma Phe levels. No clinical intervention or study drug is provided by BioMarin in this study.
- Trial name
- NCT04452513
- Where
- 14 sites in United States
- Volunteers
- 32 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
A Study of MZE782 in Adults With PKU
The purpose of this study is to evaluate the safety, tolerability, and efficacy of MZE782 in adults with Phenylketonuria (PKU).
- Trial name
- CIPheR (NCT07694440)
- Testing
- MZE782
- Where
- 9 sites in United States, France and 1 more
- Volunteers
- 38 people
- Sponsor
- Maze Therapeutics
Phenylketonurias, PAH Deficiency
Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency
This is an open-label, sequential ascending dose-escalation, Phase 1 study to evaluate the safety and efficacy of a single intravenous (I.V.) administration of HMI-103, a gene editing development candidate, in adult participants…
- Conditions
- Phenylketonurias, PAH Deficiency, Phenylketonuria
- Trial name
- NCT05222178
- Testing
- HMI-103
- Where
- 2 sites in United States
- Volunteers
- 3 people
- Sponsor
- Homology Medicines, Inc
Phenylketonurias
Evaluation of PKU Sphere
A prospective, open-label study of PKU Sphere in patients with PKU following a phenylalanine restricted therapeutic diet.
- Trial name
- NCT03419819
- Testing
- PKU Sphere
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonuria
A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302
A Phase 3 substudy to evaluate executive function in adults with phenylketonuria who are participating in the phase 3 Study, 165-302. Approximately 100 subjects, aged ≥ 18 to ≤ 70 years old, with PKU will be enrolled.
- Trial name
- PRISM303 (NCT02468570)
- Testing
- Administration of CANTAB and Subject Global Assessment
- Where
- 4 sites in United States
- Volunteers
- 9 people
- Sponsor
- BioMarin Pharmaceutical
Tetrahydrobiopterin Deficiency
Retrospective Observational Safety Effectiveness With Kuvan in hpA
A retrospective study to collect the effectiveness and safety data of the past treatment with KUVAN in Chinese patients with HPA caused by BH4 deficiency.
- Trial name
- ROSEKA (NCT03864029)
- Testing
- KUVAN
- Where
- China
- Volunteers
- 26 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias
Compliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of Phenylketonuria
Thirty eligible PKU patients (≥ 8 years), identified as tablet protein substitute users, will be recruited. Patients will firstly observe a 7-day baseline period, in which participants will continue with their existing diet…
- Trial name
- NCT03333720
- Testing
- Phenylalanine-free protein substitute tablets
- Sponsor
- Nutricia UK Ltd
Phenylketonuria, PAH Deficiency
Long-Term Follow Up Study of Subjects Previously Administered HMI 102
An Open-Label, Long-Term Follow Up Study of Safety and Efficacy in PKU Subjects with PAH Deficiency Previously Administered HMI 102
- Trial name
- NCT04348708
- Testing
- HMI-102
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Homology Medicines, Inc
Phenylketonurias
Safety and Efficacy Study of NGGT002 in Adult Patients With Phenylketonuria
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 Phenylketonuria (PKU).
- Trial name
- NCT06687733
- Testing
- NGGT002
- Where
- 2 sites in China
- Volunteers
- 18 people
- Sponsor
- NGGT (Suzhou) Biotechnology Co., Ltd.
Phenylketonuria, Healthy
Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria
This Phase 1/2a, first-in-human, oral single and multiple dose-escalation, randomized, double-blinded, placebo-controlled study is evaluating SYNB1618 in healthy volunteers (HV) and subjects diagnosed with phenylketonuria (PKU)…
- Trial name
- PKU (NCT03516487)
- Testing
- SYNB1618
- Where
- 4 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Synlogic
Phenylketonuria (PKU)
A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults
The 165-901 study is designed to identify the appropriate tools for use in future interventional studies on the neurocognitive effects of pegvaliase on adults with PKU.
- Trial name
- 165-901 (NCT03505125)
- Where
- 14 sites in United States, Canada and 5 more
- Volunteers
- 63 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias, PKU
Natural History Clinical Study in Adult PKU
The objective of this study is to characterize the natural history of phenylketonuria (PKU) due to phenylalanine hydroxylase (PAH) deficiency in adults through prospective collection of clinical, cognitive, and quality of life…
- Trial name
- NCT04768348
- Where
- 8 sites in United States
- Volunteers
- 7 people
- Sponsor
- Homology Medicines, Inc
Phenylketonuria
Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU
This multicenter, open label study is designed to evaluate the safety of Kuvan® and its effect on neurocognitive function, blood Phe concentration, and growth in children with PKU who are 0-6 years old.
- Trial name
- PKU-015 (NCT00838435)
- Testing
- sapropterin dihydrochloride
- Where
- 19 sites in United States, Canada
- Volunteers
- 95 people
- Sponsor
- BioMarin Pharmaceutical