Clinical trials: Phenylketonuria (PKU), open to volunteers
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.
Phenylketonuria
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment is initiated in early childhood.
- Trial name
- EPIPHENY (NCT06302348)
- Testing
- Sepiapterin
- Where
- 14 sites in United States, Australia and 5 more
- Volunteers
- 56 people
- Sponsor
- PTC Therapeutics
Phenylketonuria (PKU) and Hyperphenylalaninemia
PheCheck™ Validation Study
The goal of this observational study is to evaluate the performance of the PheCheck™ test for the rapid detection of phenylalanine (Phe) from a fingerstick sample, in patients 1 year or older with phenylketonuria (PKU) or…
- Trial name
- NCT07551921
- Testing
- PheCheck, Dried Blood Spot Cards.
- Where
- 2 sites in United States
- Volunteers
- 60 people
- Sponsor
- Aptatek BioSciences, Inc
Phenylketonurias
Development of Novel Psychological Assessment Tools and Anxiety Intervention for Phenylketonuria
While previous PKU intervention research has largely focused on pharmacological treatment of elevated Phe levels, the adaptation of evidence-based psychosocial therapy holds promise for addressing cognitive and psychological…
- Trial name
- NCT06560736
- Testing
- Show Me FIRST coping skills intervention
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Missouri-Columbia
Phenylketonurias
Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited metabolic disorder that impairs the metabolism of the essential amino acid phenylalanine (Phe).
- Trial name
- NCT04404530
- Testing
- Palynziq
- Where
- 2 sites in United States
- Volunteers
- 45 people
- Sponsor
- Emory University
Phenylketonuria (PKU)
PKU Microtablets Case Studies
Phenylalanine (Phe) free protein substitutes are typically presented in ready to drink liquid or powder format and are made up with water to a set volume.
- Trial name
- NCT07671859
- Testing
- PKU Microtablet protein substitute
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Nutricia UK Ltd
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 (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, Non Alcoholic Fatty Liver
Walking Program in Fatty Liver Children With Phenylketonuria
phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood.
- Trial name
- NCT06718842
- Testing
- walking free online supervised program
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Cairo University
Phenylketonuria (PKU)
A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)
This is a 10-year multi-center, prospective, longitudinal, single arm study evaluating immunologic, inflammatory and laboratory parameters associated with long-term Palynziq treatment in subjects with phenylketonuria (PKU) in the…
- Trial name
- NCT06305234
- Testing
- Pegvaliase
- Where
- 11 sites in United States
- Volunteers
- 200 people
- Sponsor
- BioMarin Pharmaceutical
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
Eating Disorders in Patients With Phenylketonuria
The prevalence of eating disorders and BMI are significantly higher in PKU patients than in the general population. The protein-restricted diet associated with high carbohydrate intake and the severity of the genetic defect and…
- Trial name
- TCA-PKU (NCT07698743)
- Where
- France
- Volunteers
- 70 people
- Sponsor
- Central Hospital, Nancy, France
Phenylketonuria, Maternal
A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding
This is a Phase 4 observational study designed to assess the impact of Palynziq ® (pegvaliase) treatment in pregnant women with PKU and on their offspring who were exposed to pegvaliase at any time during pregnancy and…
- Trial name
- PALomino (NCT05579548)
- Testing
- Pegvaliase
- Where
- 4 sites in United States, Canada and 2 more
- Volunteers
- 50 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
A Self-test Home-use Blood Phenylalanine Monitoring System Under the Brand Name Egoo Phe System Has Been Developed for Measurement of Phenylalanine (Phe) in Individuals Diagnosed With Phenylketonuria (PKU): The Study Purpose is to Evaluate Accuracy and Usability
A home-use self-test blood phenylalanine monitoring system under the brand name Egoo Phe System from manufacturer Egoo Health Aps has been developed for measurement of phenylalanine (Phe) in individuals diagnosed with…
- Trial name
- NCT06940193
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Egoo Health Aps
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Phenylketonuria
A Study of JNT-517 in Participants With Phenylketonuria (PKU)
This Phase 3 study will evaluate the safety, effectiveness, tolerability, and how the body processes JNT-517 in children, adolescents, and adults with phenylketonuria.
- Trial name
- NCT06971731
- Testing
- JNT-517
- Where
- 26 sites in United States, Australia and 8 more
- Volunteers
- 120 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Pregnancy, Phenylketonuria
Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria
The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about their disease and nutrition related issues in a camp environment.
- Trial name
- NCT01659749
- Testing
- Metabolic camp
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Emory University
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