Clinical trials: PKU
Phenylketonuria
Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU)
This study is an international, multi-center, randomized, double-blind, placebo-controlled, two-treatment, two-period cross-over study to evaluate the pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral…
- Trial name
- NCT04085666
- Testing
- CDX 6114
- Where
- 2 sites in Australia, Germany
- Volunteers
- 18 people
- Sponsor
- Société des Produits Nestlé (SPN)
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
SNAP: Study Nutrients in Adult 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
- SNAP (NCT03858101)
- Where
- 4 sites in Belgium, Denmark and 1 more
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Nutricia Research
Healthy Volunteers
A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together
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, carbamazepine, and methotrexate in healthy…
- Trial name
- NCT07446400
- Testing
- Repinatrabit, EE/NE, Metformin
- Where
- Australia
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
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
Phenylketonurias
Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of CDX 6114 in PKU Patients
The primary objective is of this Phase 1 study is to evaluate the safety and tolerability of daily, multiple, oral doses of CDX-6114 when administered to patients with PKU for 14 days.
- Trial name
- NCT04256655
- Testing
- cohort 1 0.225g, Cohort 2 0.75g, Cohort 3 2.25 g
- Sponsor
- Société des Produits Nestlé (SPN)
Phenylalanine Hydroxylase Deficiencies
Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety
The aim of the study is to confirm the efficacy and safety of BH4 in the treatment of hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency in patients responsive to BH4.
- Trial name
- NCT00432822
- Testing
- tetrahydrobiopterin (BH4)
- Volunteers
- 50 people
- Sponsor
- Orphanetics Pharma Entwicklungs GmbH
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, PKU
Evaluation of the Express Plus Range
A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM.
- Conditions
- Phenylketonurias, PKU, Homocystinuria, Maple Syrup Urine Disease
- Trial name
- express plus (NCT05051657)
- Testing
- PKU express plus
- Where
- 6 sites in United Kingdom
- Volunteers
- 28 people
- Sponsor
- Vitaflo International, 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
Phenylketonurias, Hyperphenylalaninaemia, Type I
Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia
This study centres around a new one-a-day phenylalanine-free protein substitute for phenylketonuria patients. Fifty eligible adults (≥ 16 years) with proven phenylketonuria or hyperphenylalaninemia will be recruited and randomly…
- Trial name
- NCT03167697
- Testing
- Synergy, Routine
- Where
- 6 sites in United Kingdom
- Volunteers
- 14 people
- Sponsor
- Nutricia UK Ltd
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
PKU
Feeding Patterns and Practices in Young Children With PKU During the First Two Years of Life
In this study the feeding patterns and practices at the introduction of a second stage phe-free protein substitute will be assessed in young children with PKU.
- Trial name
- PKU-weaning (NCT03913156)
- Testing
- B2970 Metabolic Texture Modified Protein Substitute
- Where
- 3 sites in United Kingdom
- Volunteers
- 46 people
- Sponsor
- Nutricia Research
Endothelial Dysfunction
A Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dysfunction
This Phase 2, randomized, open-label, 2-treatment, 2-sequence, 2-period crossover, pharmacokinetic (PK) study will compare plasma concentrations of BH4 in subjects with endothelial dysfunction following 14 days of treatment by…
- Trial name
- NCT00532844
- Testing
- Sapropterin Dihydrochloride, Sapropterin Dihydrochloride and Vitamin C
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- BioMarin Pharmaceutical
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) and Hyperphenylalaninemia
PheCheck™ Validation Study
The goal of this observational study is to evaluate the performance of the PheCheck™ test for the rapid detection of phenylalanine (Phe) from a fingerstick sample, in patients 1 year or older with phenylketonuria (PKU) or…
- Trial name
- NCT07551921
- Testing
- PheCheck, Dried Blood Spot Cards.
- Where
- 2 sites in United States
- Volunteers
- 60 people
- Sponsor
- Aptatek BioSciences, Inc
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
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
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 efficacy in adults with PKU.
- Trial name
- NCT07477691
- Testing
- Pegvaliase, Methotrexate
- Where
- 12 sites in United States
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
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