Clinical trials: PKU
Phenylketonurias
Evaluation of Low Phenylalanine Formulas
Ajinomoto Cambrooke has developed a PKU protein substitute that is a proprietary blend of purified Glycomacropeptide (GMP) and essential amino acids, under the brand name Glytactin®.
- Trial name
- NCT06332105
- Testing
- Glytactin, L-AA
- Where
- 2 sites in United Kingdom
- Volunteers
- 19 people
- Sponsor
- Ajinomoto Co., Inc.
Phenylketonuria
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 early childhood.
- Trial name
- EPIPHENY (NCT06302348)
- Testing
- Sepiapterin
- Where
- 14 sites in United States, Australia and 5 more
- Volunteers
- 56 people
- Sponsor
- PTC Therapeutics
Phenylketonuria, Inborn Errors of Metabolism
Evaluation of PKU Explore
To evaluate the acceptability, tolerance and effect on metabolic control of PKU Explore, a renovated Phe free protein substitute for the dietary management of PKU in children from 6 months to 5 years.
- Trial name
- PKU Explore (NCT03168399)
- Testing
- PKU Explore
- Where
- 3 sites in United Kingdom
- Volunteers
- 22 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonuria (PKU)
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 Study JNT517-101 (NCT05781399) or JNT517-201…
- Trial name
- NCT06628128
- Testing
- JNT-517
- Where
- 12 sites in United States, Australia
- Volunteers
- 240 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
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
Kuvan®'s Effect on the Cognition of Children With Phenylketonuria
The study is a single-cohort, interventional, open-label trial to evaluate long-term neurocognitive (NC) outcomes in children aged 4 to 5 years with phenylketonuria (PKU) treated with Kuvan® and Phenylalanine-restricted diet over…
- Trial name
- KOGNITO (NCT01965912)
- Testing
- Kuvan®
- Where
- 12 sites in Germany, Italy and 2 more
- Volunteers
- 34 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias, Hyperphenylalaninaemia
Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of Phenylketonuria
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of phenylalanine-free protein substitute tablets for young children with PKU aged of 7 years or older.
- Conditions
- Phenylketonurias, Hyperphenylalaninaemia, Tetrahydrobiopterin Deficiency
- Trial name
- NCT04375592
- Testing
- Phenylalanine-free protein substitute in tablet form (XPhe minis)
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
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
Phenylketonurias, PKU
Evaluation of PKU Sphere in Italy
20 participants with PKU will build-up their dietary intake of PKU sphere over 2-16 weeks, depending on their level of metabolic control whilst doing so.
- Trial name
- NCT04679467
- Testing
- PKU sphere
- Where
- 4 sites in Italy
- Volunteers
- 13 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonuria (PKU)
Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU
This is a Phase 3 open-label extension study enrolling adult patients with PKU who were previously treated with pegvaliase in Studies PAL-003 (NCT00924703) or 165-302 (NCT02468570).
- Trial name
- NCT03694353
- Testing
- Pegvaliase
- Where
- 17 sites in United States
- Volunteers
- 37 people
- Sponsor
- BioMarin Pharmaceutical
PKU, Phenylketonurias
Market Research - Acceptability Study for a New PKU Protein Substitute
The aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
- Conditions
- PKU, Phenylketonurias, Inborn Errors of Metabolism, Metabolic Disease
- Trial name
- NCT04318509
- Testing
- GMPOWER
- Where
- 2 sites in United Kingdom
- Volunteers
- 8 people
- Sponsor
- Dr. Schär AG / SPA
Phenylketonuria
A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria
The main purpose of this study is to evaluate the long-term safety of PTC923 in participants with phenylketonuria, and to evaluate the changes from baseline in dietary phenylalanine (Phe)/protein consumption.
- Trial name
- NCT05166161
- Testing
- PTC923
- Where
- 46 sites in United States, Australia and 17 more
- Volunteers
- 247 people
- Sponsor
- PTC Therapeutics
Phenylketonuria (PKU)
A Self-test Home-use Blood Phenylalanine Monitoring System Under the Brand Name Egoo Phe System Has Been Developed for Measurement of Phenylalanine (Phe) in Individuals Diagnosed With Phenylketonuria (PKU): The Study Purpose is to Evaluate Accuracy and Usability
A home-use self-test blood phenylalanine monitoring system under the brand name Egoo Phe System from manufacturer Egoo Health Aps has been developed for measurement of phenylalanine (Phe) in individuals diagnosed with…
- Trial name
- NCT06940193
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Egoo Health Aps
Tetrahydrobiopterin Deficiencies, Hyperphenylalaninemia, Non-Phenylketonuric
Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
The purpose of this study is to evaluate the ability of Phenoptin to control blood phenylalanine levels in subjects who have hyperphenylalaninemia due to a primary BH4 deficiency and to evaluate the safety of Phenoptin in this…
- Trial name
- NCT00355264
- Testing
- Phenoptin
- Where
- 10 sites in United States, Germany
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria, Hyperphenylalaninaemia
PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
The objective of this study is to evaluate the safety of long-term treatment with Kuvan.
- Trial name
- PKUDOS (NCT00778206)
- Testing
- Kuvan
- Where
- 45 sites in United States
- Volunteers
- 1,887 people
- Sponsor
- BioMarin Pharmaceutical
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
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.
Phenylketonurias
Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet
The primary objective of this trial is to evaluate the ability of Phenoptin to increase phenylalanine (phe) tolerance in children with phenylketonuria who are following a phe-restricted diet.
- Trial name
- NCT00272792
- Testing
- Sapropterin Dihydrochloride
- Where
- 9 sites in United States
- Volunteers
- 45 people
- Sponsor
- BioMarin Pharmaceutical
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