Clinical trials: PKU
Phenylketonuria
A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria
This is a single group Phase 1/Phase 2, 1-arm, open-label study with SAR444836, an adeno-associated virus (AAV) vector-mediated gene transfer of human phenylalanine hydroxylase (PAH), for the treatment of adult participants with…
- Trial name
- NCT05972629
- Testing
- SAR444836
- Where
- 11 sites in United States, Argentina and 3 more
- Volunteers
- 32 people
- Sponsor
- Sanofi
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
Maternal Phenylketonuria
Evaluation of PKU Sphere in Maternal PKU
This observational study aims to recruit females, aged 16 years and over, with phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) following dietary management advice pre-conception and/or during pregnancy, who are willing…
- Trial name
- Maternal PKU (NCT04224142)
- Testing
- PKU sphere
- Where
- 3 sites in United Kingdom
- Volunteers
- 12 people
- Sponsor
- Vitaflo International, Ltd
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
A 16 Week Study Evaluating the Introduction of a GMP Based Protein Substitute in Participants With PKU
This study aims to measure changes in participants' blood phenylalanine (Phe) levels in participants with PKU when switching from a conventional amino acid based protein substitute to a GMP based protein substitute (PKU Sphere)…
- Trial name
- GMP In PKU (NCT03771391)
- Testing
- PKU Sphere
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- Vitaflo International, 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
Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria
This is an open-label, non-comparative, Phase 3 study to evaluate the degree, frequency of response and safety of Kuvan® (sapropterin dihydrochloride) in subjects aged 4 to 18 years who have phenylketonuria and with elevated…
- Trial name
- NCT01732471
- Testing
- Kuvan®
- Where
- Germany
- Volunteers
- 90 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Phenylketonurias
Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels
The primary objective of this study is to evaluate the efficacy of Phenoptin™ (sapropterin dihydrochloride) in reducing blood phenylalanine (Phe) levels in subjects with phenylketonuria.
- Trial name
- NCT00104247
- Testing
- sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
- Where
- 13 sites in United States
- Volunteers
- 89 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects
Sapropterin dihydrochloride (subsequently referred to as sapropterin) (Kuvan®) was approved by the FDA for the treatment of hyperphenylalaninemia in 2007.
- Trial name
- NCT00789568
- Testing
- sapropterin dihydrochloride, Moxifloxacin
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- 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 (PKU)
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 PKU.
- Trial name
- NCT06637514
- Testing
- JNT-517 Tablet
- Where
- 7 sites in United States, Australia
- Volunteers
- 14 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Phenylketonurias
Effects of Synergy on Nutrient Intake and Acceptability in Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine…
- Trial name
- ESSENTIAL (NCT03777826)
- Testing
- PKU Synergy
- Where
- 3 sites in Germany, Netherlands
- Volunteers
- 13 people
- Sponsor
- Nutricia Research
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
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
A Study of PTC923 in Participants With Phenylketonuria
The main purpose of this trial is to evaluate the efficacy of PTC923 in reducing blood phenylalanine (Phe) levels in participants with phenylketonuria as measured by mean change in blood Phe levels from baseline to Weeks 5 and 6…
- Trial name
- NCT05099640
- Testing
- PTC923
- Where
- 43 sites in United States, Australia and 13 more
- Volunteers
- 157 people
- Sponsor
- PTC Therapeutics
Phenylketonurias
The Effects of CGMP in Children and Adults With PKU
Randomised controlled trial with a crossover design. For early and continuously treated patients with phenylketonuria (PKU) that are adherent.
- Trial name
- ELEMENT (NCT04076176)
- Testing
- CGMP protein substitute, L-amino acid protein substitute
- Where
- 3 sites in Denmark, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonuria
Efficacy and Safety of SYNB1618 and SYNB1934 in Adult Patients With Phenylketonuria
This Phase 2 study in patients with phenylketonuria (PKU) will be an open-label, dual-arm study of either a SYNB1618 or SYNB1934 dose-ramp regimen.
- Trial name
- SynPheny-1 (NCT04534842)
- Testing
- SYNB1618, SYNB1934
- Where
- 11 sites in United States
- Volunteers
- 20 people
- Sponsor
- Synlogic
Phenylketonuria (PKU)
PKU Microtablets Case Studies
Phenylalanine (Phe) free protein substitutes are typically presented in ready to drink liquid or powder format and are made up with water to a set volume.
- Trial name
- NCT07671859
- Testing
- PKU Microtablet protein substitute
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Nutricia UK Ltd
Phenylketonuria
Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period
The primary objective of the study is to evaluate the proportion of responders (that is, greater than or equal to [>=] 30 percent reduction from Baseline in blood phenylalanine [Phe] level) to treatment with Kuvan® (sapropterin…
- Trial name
- ENDURE (NCT01082328)
- Testing
- Kuvan®
- Where
- Norway
- Volunteers
- 59 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Phenylketonuria
Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU
The purpose of this study is to evaluate whether weekly injections of phenylalanine ammonia lyase (rAvPAL-PEG) can reduce blood phenylalanine concentrations in PKU subjects and whether repeated administration is safe.
- Trial name
- NCT00925054
- Testing
- rAvPAL-PEG 0.001 mg/kg, rAvPAL-PEG 0.003 mg/kg, rAvPAL-PEG 0.01 mg/kg
- Where
- 11 sites in United States
- Volunteers
- 40 people
- Sponsor
- BioMarin Pharmaceutical