Clinical trials: Phenylketonuria
Phenylketonuria, PAH Deficiency
Long-Term Follow Up Study of Subjects Previously Administered HMI 102
An Open-Label, Long-Term Follow Up Study of Safety and Efficacy in PKU Subjects with PAH Deficiency Previously Administered HMI 102
- Trial name
- NCT04348708
- Testing
- HMI-102
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Homology Medicines, Inc
Phenylketonuria
Sapropterin Expanded Access Program
The Purpose of this study is to provide patients with hyperphenylalaninemia (HPA) due to Phenylketonuria (PKU) access to sapropterin dihydrochloride and to collect more information about the safety of the drug in an expanded…
- Trial name
- NCT00484991
- Testing
- Sapropterin dihydrochloride
- Where
- 36 sites in United States
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria, Inborn Errors of Metabolism
Evaluation of PKU Start
To evaluate the acceptability, tolerance and effect on metabolic control of PKU Start, a new Phe free protein substitute for the dietary management of PKU in infants from birth.
- Trial name
- PKU Start (NCT03058848)
- Testing
- PKU Start
- Where
- 3 sites in United Kingdom
- Volunteers
- 10 people
- Sponsor
- Vitaflo International, Ltd
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
Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3)
SYNB1934-CP-003 was designed as a 3-part, adaptive study consisting of a dose-escalating, open-label period (DEP; Part 1) of up to 15 weeks, followed by a 4-week, double-blind, placebo-controlled, randomized withdrawal period…
- Trial name
- SYNPHENY-3 (NCT05764239)
- Testing
- SYNB1934v1
- Where
- 21 sites in United States, Canada and 2 more
- Volunteers
- 35 people
- Sponsor
- Synlogic
Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Kuvan® is a synthetic copy of a body's own substance called tetrahydrobiopterin (BH4). BH4 is required by the body to use an amino acid called phenylalanine in order to build another substance called tyrosine.
- Trial name
- KAMPER (NCT01016392)
- Where
- 69 sites in Austria, France and 7 more
- Volunteers
- 627 people
- Sponsor
- BioMarin Pharmaceutical
Hypertension
A Study of the Effects of 6R-BH4 on Blood Pressure in Subjects With Poorly Controlled Systemic Hypertension
The purpose of this study is to determine whether 6R-BH4 (sapropterin dihydrochloride) is safe and effective in the treatment of poorly controlled hypertension in the presence or absence of type 2 diabetes.
- Trial name
- NCT00325962
- Testing
- 6R-BH4 (sapropterin dihydrochloride)
- Where
- 24 sites in United States
- Volunteers
- 84 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU
This is a Phase 3 open-label extension study enrolling adult patients with PKU who were previously treated with pegvaliase in Studies PAL-003 (NCT00924703) or 165-302 (NCT02468570).
- Trial name
- NCT03694353
- Testing
- Pegvaliase
- Where
- 17 sites in United States
- Volunteers
- 37 people
- Sponsor
- BioMarin Pharmaceutical
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
Phenylketonuria (PKU)
A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)
This is a 10-year multi-center, global, observational study to further characterize the safety profile of pegvaliase, including hypersensitivity reactions, long-term safety and tolerability, and the effectiveness of the…
- Trial name
- PALace (NCT05813678)
- Testing
- Pegvaliase
- Where
- 26 sites in United States, Germany and 1 more
- Volunteers
- 450 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias
A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels
The primary objective of this trial is to evaluate the safety and tolerability of long-term Phenoptin treatment in subjects with PKU.
- Trial name
- NCT00225615
- Testing
- sapropterin dihydrochloride
- Where
- 14 sites in United States
- Volunteers
- 100 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
PANDA: PKU Amino Acid Evaluation
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
- PANDA (NCT04086511)
- Where
- 2 sites in Belgium, United Kingdom
- Volunteers
- 37 people
- Sponsor
- Nutricia Research
Phenylketonurias, PKU
Natural History Clinical Study in Adult PKU
The objective of this study is to characterize the natural history of phenylketonuria (PKU) due to phenylalanine hydroxylase (PAH) deficiency in adults through prospective collection of clinical, cognitive, and quality of life…
- Trial name
- NCT04768348
- Where
- 8 sites in United States
- Volunteers
- 7 people
- Sponsor
- Homology Medicines, 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
Phenylketonuria, Tyrosinemia
GMP Powdered Substitutes in PKU and TYR
Four new GMP-based protein substitutes have been developed to support the dietary management of PKU and TYR. These products are powdered protein substitutes, low in phenylalanine and low in phenylalanine and tyrosine…
- Trial name
- NCT06941532
- Testing
- GMP Intervention Product
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- Nutricia UK Ltd
Phenylketonuria, Healthy
Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria
This Phase 1/2a, first-in-human, oral single and multiple dose-escalation, randomized, double-blinded, placebo-controlled study is evaluating SYNB1618 in healthy volunteers (HV) and subjects diagnosed with phenylketonuria (PKU)…
- Trial name
- PKU (NCT03516487)
- Testing
- SYNB1618
- Where
- 4 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Synlogic
PKU
Evaluation of PKU UP
PKU UP is a prospective, single-arm, open-label, 26-week acceptability study to evaluate PKU UP for the dietary management of participants with phenylketonuria (PKU).
- Trial name
- PKU UP (NCT05995717)
- Testing
- PKU UP
- Where
- 7 sites in United Kingdom
- Volunteers
- 16 people
- Sponsor
- Vitaflo International, Ltd
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
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
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