Clinical trials: Phenylketonurias
Phenylketonuria (PKU)
AAV Gene Therapy Study for Subjects with PKU
This is a Phase 1/2, open-label, dose escalation study to evaluate the safety, efficacy and tolerability of BMN 307 in adult PKU subjects with PAH deficiency.
- Trial name
- NCT04480567
- Testing
- BMN 307
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 100 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
Efficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With Phenylketonuria
This is a randomized, double-blind, placebo-controlled, parallel-group study. A total of 15 children with phenylketonuria(PKU) age 3 to 17 years will be randomized to two groups.
- Trial name
- NCT05948020
- Testing
- CBT102-A capsule
- Where
- China
- Volunteers
- 15 people
- Sponsor
- Children's Hospital of Fudan University
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
Phenylketonurias
Testing of Four Home Phenylalanine Monitoring Prototype Devices
The objective of this study is to test four home phenylalanine monitoring prototype devices, selected out of a pool of candidates by the National PKU Alliance Scientific Committee.
- Trial name
- NCT02445521
- Where
- 3 sites in United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Emory University
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.
PKU, Tyrosinemias
GMP Case Studies of Tolerance, Safety and Acceptability in PKU and TYR
Three new protein substitutes have been developed to help with compliance in PKU and TYR patients, which are powdered protein substitutes, low in Phe and, low in Phe and Tyr respectively, with a mixed balance of glycomacropeptide…
- Trial name
- NCT05062226
- Testing
- PKU/TYR GMP Protein Substitute
- Where
- United Kingdom
- Volunteers
- 45 people
- Sponsor
- Nutricia UK Ltd
Phenylketonuria, Mild Hyperphenylalaninemia
Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study
Phenylketonuria (PKU) is a genetic disorder known to cause severe reduction in intelligence and deficits in cognitive function; it is associated with an elevated level of Phenylalanine (Phe) in blood.
- Trial name
- NCT01924026
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- The Hospital for Sick Children
Phenylketonurias
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).
- Trial name
- NCT04404530
- Testing
- Palynziq
- Where
- 2 sites in United States
- Volunteers
- 45 people
- Sponsor
- Emory University
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
Protein Requirements in Children With Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited inborn error of an amino acid phenylalanine (PHE) metabolism affecting 1:15,000 births. It is caused by a decreased activity of an enzyme in the liver called phenylalanine hydroxylase (PAH)…
- Trial name
- NCT01965691
- Testing
- Protein intake
- Where
- Canada
- Volunteers
- 4 people
- Sponsor
- University of British Columbia
Phenylketonuria
Phenylalanine and Its Impact on Cognition
The PICO-Study is a randomized, placebo-controlled, crossover, non-inferiority trial conducted to add evidence to the current European treatment guidelines for adult patients with phenylketonuria.
- Trial name
- PICO (NCT03788343)
- Testing
- Phenylalanine
- Where
- Switzerland
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Phenylketonuria
GMP Drink for PKU Study
This study will evaluate the safety, gastrointestinal (GI) tolerance, acceptability and compliance of a Glycomacropeptide-based protein substitute for patients with Phenylketonuria (PKU).
- Trial name
- NCT02915510
- Testing
- Glycomacropeptide-based protein substitute
- Where
- 5 sites in United Kingdom
- Volunteers
- 40 people
- Sponsor
- Nutricia UK Ltd
Phenylketonurias
The Effect of Nursing Empowerment Program
The study has shown that the strengthening program applied to the families of children diagnosed with phenylketonuria (PKU) and the education given; It will be conducted in order to examine the effect of the family's coping…
- Trial name
- NCT05497050
- Testing
- Family education
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Cukurova University
Phenylketonuria
A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria
The main goal of this study is to assess the safety, and tolerability of multiple doses of mRNA-3210 in participants with phenylketonuria (PKU).
- Trial name
- NCT06147856
- Testing
- mRNA-3210
- Sponsor
- ModernaTX, Inc.
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
PKU, Phenylketonurias
Market Research - Acceptability Trial for a New PKU Amino Acid Based 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
- NCT04309331
- Testing
- Motion
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Dr. Schär AG / SPA
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
Study of BH4, a New and Simple Treatment of Mild PKU
The main purpose is to test whether treatment with BH4-tablets can replace the protein restrictive diet in patients with mild PKU caused by a certain frequent mutation.
- Trial name
- NCT00260000
- Testing
- 5,6,7,8-tetrahydrobiopterin
- Where
- Denmark
- Volunteers
- 15 people
- Sponsor
- The Kennedy Institute-National Eye Clinic
Phenylketonurias, Hyperphenylalaninaemia
PKU Low Calorie Drink Study
This study will evaluate the compliance, acceptability, gastrointestinal (GI) tolerance and safety of a lower calorie amino acid based liquid protein substitute for patients with Phenylketonuria (PKU) or hyperphenylalaninemia…
- Trial name
- NCT04272736
- Testing
- Low calorie protein substitute
- Sponsor
- Nutricia UK Ltd
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