Clinical trials: Phenylketonuria (PKU)
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.
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
Phenylketonurias
Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?
Treatment of PKU implies for most patients that with strict adherence to dietary treatment they can achieve excellent neurocognitive outcome. Dietary treatment, though, is hard to comply to every day and with every single meal.
- Trial name
- PKU_Guide (NCT05128149)
- Testing
- no intervention
- Where
- Switzerland
- Volunteers
- 200 people
- Sponsor
- University Children's Hospital, Zurich
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 (PKU)
Brain Aging in Phenylketonuria
Background: Historically, the primary goal in managing phenylketonuria (PKU) has been to prevent severe and irreversible intellectual disability, as well as to address nutritional deficiencies that could lead to growth…
- Trial name
- NCT06969209
- Where
- Switzerland
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Phenylketonuria
Effect of Different Meal Types Given Before Exercise on Plasma Amino Acid Levels and Metabolic Control Parameters in Classical Phenylketonuria Patients Undergoing Aerobic and Resistance Exercises
This study will be the first in the literature to evaluate the relationship between aerobic and resistance exercises, plasma amino acid levels, metabolic control of patients, and the metabolic response to exercise with different…
- Trial name
- NCT07526909
- Testing
- Aerobic Exercise, Resistance Exercise, Water
- Where
- Turkey (Türkiye)
- Volunteers
- 10 people
- Sponsor
- Hacettepe University
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
Phenylketonuria (PKU)
Multiomics Approach in Adult Patients With Phenylketonuria
The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.
- Trial name
- GENOPHEN (NCT07484945)
- Where
- 15 sites in France
- Volunteers
- 149 people
- Sponsor
- University Hospital, Tours
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
Phenylketonurias
Evaluation of PKU Explore France
PKU explore France is an exploratory study to evaluate the acceptability of PKU explore, a food for special medical purposes, for use in the dietary management of phenylketonuria in infants from 6 months to 3 years of age…
- Trial name
- NCT04898829
- Testing
- PKU explore
- Where
- France
- Volunteers
- 7 people
- Sponsor
- Vitaflo International, Ltd
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
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
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
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
Phenylketonurias, Nutritional and Metabolic Diseases
Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients
Phenylketonuria is a rare metabolic disease that results from the absence or near-absence activity of the enzyme phenylalanine hydroxylase, which metabolizes the amino acid phenylalanine to tyrosine in the body.
- Trial name
- NCT04969809
- Testing
- Ultrasound of the jugular veins, addition of phenylalanine-free protein substitutes
- Volunteers
- 50 people
- Sponsor
- University Medical Centre Ljubljana
Phenylketonuria, PKU
Moderate Intensity Exercise and Phenylketonuria
Phenylketonuria (PKU), an inherited genetic disorder, can cause irreversible brain damage, declined executive function, and autistic tendencies unless a phenylalanine (Phe) restricted diet is consistently maintained throughout…
- Trial name
- NCT01904708
- Testing
- Acute Moderate Intensity Exercise
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Oregon Health and Science University