Clinical trials: PKU
Phenylketonuria (PKU)
Iron Supplements Effect on b-Phe Levels in PKU Patients During 3 Years Study
This clinical trial study aims to Evaluate whether iron supplementation for 3 months may help reduce Phe blood concentration in PKU patients by enhancing the hydroxylation of Phe to tyrosine (Tyr).
- Trial name
- ISPEK (NCT06792240)
- Testing
- iron supplementation, control group
- Where
- Italy
- Volunteers
- 84 people
- Sponsor
- ASST Santi Paolo e Carlo
Phenylketonuria
Sapropterin in Individuals With Phenylketonuria
Investigators at Washington University will examine the effects of sapropterin (Kuvan) on brain and cognition in individuals with phenylketonuria (PKU) using neuropsychological and neuroimaging procedures.
- Trial name
- NCT00730080
- Testing
- Sapropterin (Kuvan)
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Phenylketonuria
A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks
The primary objective of the study is to evaluate the effect of dosing regimens of multiple subcutaneous (SC) doses of rAvPAL-PEG to induce an early and sustained Phe reduction while decreasing the frequency and severity of…
- Trial name
- NCT01560286
- Testing
- BMN 165 (rAvPAL-PEG)
- Where
- 6 sites in United States
- Volunteers
- 24 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
Phenylketonurias
Evaluation of Phe Fluctuation in PKU Pts Treated With PKU GOLIKE Versus Standard Amino Acid Protein Substitute.
This is a 2 arm, randomised, controlled, cross-over study in 16 children with PKU. Subjects who are currently taking a Phe free/low Phe protein substitute will be recruited for a 31-day trial.
- Trial name
- NCT05487378
- Testing
- PKU GOLIKE
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- APR Applied Pharma Research s.a.
Phenylketonuria
MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria
This is a study about the relationship of brain biomarkers with neuropsychological functioning in PKU. All participants will undergo MRI spectroscopy, will provide a blood specimen and will receive neuropsychological testing.
- Trial name
- NCT03097250
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
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.
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
Phenylketonuria, Hyperphenylalaninemia
Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Phenylketonuria (PKU) is a rare disease where the level of phenylalanine (one of the amino acids) in the body is greatly increased. High levels can cause brain damage, especially in babies and children.
- Trial name
- NCT01869972
- Where
- 2 sites in Canada
- Volunteers
- 32 people
- Sponsor
- Hamilton Health Sciences Corporation
Inborn Errors of Metabolism, Urea Cycle Disorder
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting…
- Conditions
- Inborn Errors of Metabolism, Urea Cycle Disorder, Maple Syrup Urine Disease, Phenylketonurias
- Trial name
- MetaPROM (NCT04248062)
- Testing
- Survey
- Where
- Switzerland
- Volunteers
- 69 people
- Sponsor
- University Children's Hospital, Zurich
Phenylketonuria
Behavioral Effects of Kuvan in Children With Mild Phenylketonuria
The purpose of this study is to determine whether improvements in behavior occur in children with phenylketonuria (PKU) who are taking Kuvan.
- Trial name
- NCT00827762
- Testing
- Kuvan
- Where
- 4 sites in United States
- Volunteers
- 2 people
- Sponsor
- Washington University School of Medicine
Phenylketonuria (PKU) and Hyperphenylalaninemia
Phenylketonuria and Hyperphenylalaninemia Nutrition Study
The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and…
- Trial name
- NCT01879995
- Where
- 2 sites in Switzerland
- Volunteers
- 30 people
- Sponsor
- University of Zurich
Phenylketonuria
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria L-carnitine is mainly obtained from foods such as red meat and milk that are limited…
- Trial name
- NCT06901323
- Testing
- L-carnitine
- Where
- Egypt
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- Mansoura University
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
Pku Phenylketonuria, PAH Deficiency
BH4 Responsiveness in PAH Deficiency PKU Patients
Most forms of Phenylketonuria and hyperphenylalanemia are caused by mutations in the PAH gene (phenylalanine hydroxylase) which is responsible for the conversion of Phe into tyrosine, in the presence of the molecular oxygen and…
- Trial name
- NCT04227080
- Testing
- BH4
- Volunteers
- 40 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
Phenylketonuria, Endothelial Dysfunction
Observational Study of Endothelial Dysfunction in Phenylketonuria
The purpose of this study is to determine whether adolescent and adult patients with phenylketonuria who are on long-term phenylalanine-restricted diet suffer from endothelial dysfunction.
- Trial name
- NCT02176603
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Charite University, Berlin, Germany
Phenylketonuria (PKU)
Simple Breath Test to Examine Phenylalanine Metabolism
Phenylketonuria(PKU)is a rare condition caused by the body's inability to properly breakdown an amino acid called phenylalanine(PHE), due to a missing enzyme, phenylalanine hydroxylase(PAH).
- Trial name
- NCT02009904
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
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
Phenylketonuria
Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. The mainstay of treatment is a Phe-restricted diet, which aims to maintain blood Phe concentrations within the recommended range and prevent…
- Trial name
- NCT07728032
- Testing
- Phenylalanine-restricted diet alone, Sapropterin Dihydrochloride, Sepiapterin
- Where
- United Kingdom
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
Phenylketonuria
Nutritional and Neurotransmitter Changes in PKU Subjects on BH4
HYPOTHESIS: The investigators hypothesize that KuvanTM therapy could influence nutritional and body composition parameters and neurotransmitter concentrations in pediatric and adult PKU subjects.
- Trial name
- BH4&PKU (NCT00688844)
- Testing
- KuvanTM Therapy
- Where
- 2 sites in United States
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Emory University