Clinical trials: Phenylketonuria (PKU)
Phenylketonurias
Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU.
This is an open-label, randomized, 2-way crossover, monocentric controlled study in patients (≥ 16 years old) with phenylketonuria (PKU).
- Trial name
- NCT05827536
- Testing
- PKU GOLIKE, Standard of Care
- Where
- Italy
- Volunteers
- 21 people
- Sponsor
- APR Applied Pharma Research s.a.
Phenylketonuria
Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
The aim of this pilot study is to determine if there are any changes in brain glucose metabolism in the gray matter of patients with Phenylketonuria (PKU) and whether administration of Sapropterin (KUVAN) therapy can improve such…
- Trial name
- PKU (NCT00986973)
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Children's Hospital of Philadelphia
Phenylketonuria
Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
This is a Phase 3b, multicenter, open-label, randomized, controlled study to evaluate efficacy, safety and population pharmacokinetics of sapropterin dihydrochloride (Kuvan®) in less than 4 year-old infants and children with…
- Trial name
- SPARK (NCT01376908)
- Testing
- Kuvan®, Phenylalanine (Phe)-restricted diet
- Where
- 22 sites in Austria, Belgium and 7 more
- Volunteers
- 56 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
This double-blind, placebo-controlled, randomized study is designed to evaluate the safety and therapeutic effects of sapropterin dihydrochloride on neuropsychiatric symptoms in subjects with PKU.
- Trial name
- NCT01114737
- Testing
- Sapropterin dihydrochloride
- Where
- 36 sites in United States, Canada
- Volunteers
- 206 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Phenylketonuria
Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria
This is an open-label, non-comparative, Phase 3 study to evaluate the degree, frequency of response and safety of Kuvan® (sapropterin dihydrochloride) in subjects aged 4 to 18 years who have phenylketonuria and with elevated…
- Trial name
- NCT01732471
- Testing
- Kuvan®
- Where
- Germany
- Volunteers
- 90 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Phenylketonuria
Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU
This multicenter, open label study is designed to evaluate the safety of Kuvan® and its effect on neurocognitive function, blood Phe concentration, and growth in children with PKU who are 0-6 years old.
- Trial name
- PKU-015 (NCT00838435)
- Testing
- sapropterin dihydrochloride
- Where
- 19 sites in United States, Canada
- Volunteers
- 95 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006
The objective of this study is to evaluate the safety of long-term treatment with Phenoptin in subjects with phenylketonuria (PKU) who participated in Phase 3 clinical studies with Phenoptin.
- Trial name
- NCT00332189
- Testing
- sapropterin dihydrochloride
- Where
- 14 sites in United States
- Volunteers
- 111 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
Effects of Kuvan on Melatonin Secretion
This study examines the effect of tetrahydrobiopterin (Kuvan) and Large Neutral Amino Acid (LNAA) therapy on melatonin and dopamine levels in individuals with Phenylketonuria (PKU).
- Trial name
- NCT01617070
- Testing
- Kuvan, Large Neutral Amino Acid Therapy
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of Southern California
Phenylketonuria
Phenylketonuria, Oxidative Stress, and BH4
The purpose of this study is to see how tetrahydrobiopterin therapy (BH4; also known as sapropterin dihydrochloride or Kuvan) affects measures of oxidative stress and endothelial function in patients with Phenylketonuria (PKU).
- Trial name
- NCT01395394
- Testing
- Kuvan, Meal Challenge
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Emory University
Phenylketonuria
Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)
The purpose of this study is to evaluate the effect of daily administration of rAvPAL-PEG on the reduction of blood Phe concentrations in subjects with PKU.
- Trial name
- NCT01212744
- Testing
- rAvPAL-PEG
- Where
- 9 sites in United States
- Volunteers
- 16 people
- Sponsor
- BioMarin Pharmaceutical
BH4 Deficiency, Hyperphenylalaninemia
A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia
This study has been designed to demonstrate the safety, pharmacokinetics (PK) and preliminary efficacy of PTC923 (CNSA-001) in reducing blood phenylalanine concentrations in participants with hyperphenylalaninemia due to primary…
- Trial name
- NCT03519711
- Testing
- PTC923
- Where
- 4 sites in United States
- Volunteers
- 8 people
- Sponsor
- PTC Therapeutics
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
Phenylketonuria (PKU)
Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria
This is a Phase 3 open-label randomized controlled study enrolling approximately 54 adolescents with PKU. The study is designed to assess the safety and efficacy of pegvaliase injections.
- Trial name
- PEGASUS (NCT05270837)
- Testing
- Pegvaliase, Diet Only
- Where
- 16 sites in United States, Germany
- Volunteers
- 55 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
The Effectiveness of Kuvan in Amish PKU Patients
The purpose of this study is to determine if Amish patients with PKU show responsiveness after a high dose, prolonged Saproterin trial.
- Trial name
- NCT02677870
- Testing
- saproterin dihydrochloride, Diet treatment
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- University Hospitals Cleveland Medical Center
Phenylketonuria
A Study of PTC923 in Participants With Phenylketonuria
The main purpose of this trial is to evaluate the efficacy of PTC923 in reducing blood phenylalanine (Phe) levels in participants with phenylketonuria as measured by mean change in blood Phe levels from baseline to Weeks 5 and 6…
- Trial name
- NCT05099640
- Testing
- PTC923
- Where
- 43 sites in United States, Australia and 13 more
- Volunteers
- 157 people
- Sponsor
- PTC Therapeutics
Phenylketonuria
Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
This is a Phase 2a multicenter, double-blind, placebo-controlled, randomized, 2-arm pilot trial designed to assess the effect of sapropterin on cognitive abilities in young adults with Phenylketonuria (PKU) over a 26-week…
- Trial name
- SIGNAL (NCT01977820)
- Testing
- Sapropterin
- Where
- 2 sites in Italy, Switzerland
- Volunteers
- 2 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria
For individuals with Phenylketonuria (PKU), the investigators hypothesize that glycomacropeptide will provide an acceptable form of low-phenylalanine dietary protein that will improve dietary compliance, blood phenylalanine…
- Trial name
- PKU (NCT01428258)
- Testing
- GMP Diet/GMP Medical Foods, AA Diet/AA Medical Foods
- Where
- 2 sites in United States
- Volunteers
- 32 people
- Sponsor
- University of Wisconsin, Madison
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
An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165
The BMN 165 clinical development program has been designed to demonstrate the safety and efficacy of BMN 165 in reducing blood Phe concentrations in patients 18 to 70 years old with hyperphenylalaninemia due to PKU.
- Trial name
- Prism301 (NCT01819727)
- Testing
- BMN 165
- Where
- 31 sites in United States
- Volunteers
- 261 people
- Sponsor
- BioMarin Pharmaceutical