Clinical trials: Phenylketonuria (PKU)
Healthy
Impact of Single Exercise Session Conducted Prior to PKU Type Meal on Appetite Hormones and Energy Intake
The study applied a randomized, crossover design with preliminary (screening) session and two sequenced experimental trials. Trials were marked as Control trial and Exercise trial.
- Trial name
- NCT04302285
- Testing
- PKU type meal and Exercise, PKU type meal
- Where
- United Kingdom
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Glasgow
PKU, Tyrosinemias
GMP Case Studies of Tolerance, Safety and Acceptability in PKU and TYR
Three new protein substitutes have been developed to help with compliance in PKU and TYR patients, which are powdered protein substitutes, low in Phe and, low in Phe and Tyr respectively, with a mixed balance of glycomacropeptide…
- Trial name
- NCT05062226
- Testing
- PKU/TYR GMP Protein Substitute
- Where
- United Kingdom
- Volunteers
- 45 people
- Sponsor
- Nutricia UK Ltd
Phenylketonuria
Phenylalanine and Its Impact on Cognition
The PICO-Study is a randomized, placebo-controlled, crossover, non-inferiority trial conducted to add evidence to the current European treatment guidelines for adult patients with phenylketonuria.
- Trial name
- PICO (NCT03788343)
- Testing
- Phenylalanine
- Where
- Switzerland
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
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
A Prospective Clinical Study of Phenylketonuria (PKU)
This is a study for adults and children ≥ 14 years old who have Phenylketonuria (PKU) with uncontrolled plasma Phe levels. No clinical intervention or study drug is provided by BioMarin in this study.
- Trial name
- NCT04452513
- Where
- 14 sites in United States
- Volunteers
- 32 people
- Sponsor
- BioMarin Pharmaceutical
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)
A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults
The 165-901 study is designed to identify the appropriate tools for use in future interventional studies on the neurocognitive effects of pegvaliase on adults with PKU.
- Trial name
- 165-901 (NCT03505125)
- Where
- 14 sites in United States, Canada and 5 more
- Volunteers
- 63 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias, PAH Deficiency
Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency
This is an open-label, sequential ascending dose-escalation, Phase 1 study to evaluate the safety and efficacy of a single intravenous (I.V.) administration of HMI-103, a gene editing development candidate, in adult participants…
- Conditions
- Phenylketonurias, PAH Deficiency, Phenylketonuria
- Trial name
- NCT05222178
- Testing
- HMI-103
- Where
- 2 sites in United States
- Volunteers
- 3 people
- Sponsor
- Homology Medicines, Inc
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
Phenylketonurias
Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria
The primary objective is to evaluate the degree and frequency of response to Phenoptin™ (sapropterin dihydrochloride), as demonstrated by a reduction in blood phenylalanine (Phe) level among subjects with phenylketonuria (PKU)…
- Trial name
- NCT00104260
- Testing
- sapropterin dihydrochloride
- Where
- 13 sites in United States
- Volunteers
- 700 people
- Sponsor
- BioMarin Pharmaceutical
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
Phenylketonurias
AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU).
- Trial name
- NCT06332807
- Testing
- NGGT002
- Where
- 5 sites in United States
- Volunteers
- 12 people
- Sponsor
- NGGT INC.
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, Galactosemia
The Early History of Universal Screening for Metabolic Disorders
We are doing this study to learn more about the early history of universal screening for metabolic disorders such as PKU and galactosemia.
- Conditions
- Phenylketonuria, Galactosemia, Inborn Errors of Metabolism
- Trial name
- NCT00309400
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Miami
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
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
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
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
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
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
The primary purpose of this study is to assess the safety and tolerability of AG-181 in subjects with Phenylketonuria (PKU).
- Trial name
- NCT07241234
- Testing
- AG-181
- Where
- 5 sites in United States, Poland
- Volunteers
- 20 people
- Sponsor
- Agios Pharmaceuticals, Inc.