Clinical trials: Phenylketonuria (PKU), open to volunteers
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
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
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
Phenylketonuria (PKU)
Prevalence and Determinants of Obesity in PKU Patients
This observational cross-sectional multicenter study aims to assess the prevalence of overweight and obesity in adult patients with phenylketonuria (PKU) and to identify associated risk factors.
- Trial name
- NCT07703020
- Where
- Switzerland
- Volunteers
- 100 people
- Sponsor
- Christel Tran
Healthy Volunteers
A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together
The purpose of this study is to assess the drug-drug interaction (DDI) of repinatrabit with ethinyl estradiol/norethindrone or norethisterone (EE/NE), metformin, rosuvastatin, carbamazepine, and methotrexate in healthy…
- Trial name
- NCT07446400
- Testing
- Repinatrabit, EE/NE, Metformin
- Where
- Australia
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Phenylketonuria (PKU)
The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria
Recommendations regarding the frequency of phenylalanine level monitoring lack solid support from evidence derived from prospective randomized trials, including in the adult population with classic PKU.
- Trial name
- FreqPHEncy (NCT07825883)
- Testing
- DBS Phe monitoring once weekly, DBS Phe monitoring once monthly
- Where
- Poland
- Volunteers
- 36 people
- Sponsor
- Michał Kania
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 (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
Phenylketonuria
Immune Modulation During Palynziq® Treatment in Adults (IMPALA)
Study 165-401 is a Phase 4, open-label study designed to examine the concomitant use of methotrexate (MTX) to suppress immune responses to Palynziq and improve tolerability and efficacy in adults with PKU.
- Trial name
- NCT07477691
- Testing
- Pegvaliase, Methotrexate
- Where
- 12 sites in United States
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)
The primary objective of this clinical trial is to evaluate the safety and tolerability of single and multiple administrations of PL54 in patients aged 18-55 years.
- Trial name
- NCT07672756
- Testing
- PL54
- Where
- China
- Volunteers
- 48 people
- Sponsor
- Chongqing Peg-Bio Biopharm Co., Ltd.
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)
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
Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.
The aims of this collaborative, interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare, serious disease present since birth and detected in the context of the…
- Trial name
- ANNPHE (NCT06289348)
- Testing
- socio-psychological questionnaire, revised event impact scale (IER-S), Non directive interview
- Where
- France
- Volunteers
- 80 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Phenylketonuria (PKU)
To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria
This study is a single-arm, open-label, dose-escalation, exploratory study to evaluate the safety, tolerability, and efficacy of a single administration of GS1168 Injection in Chinese adult phenylketonuria (PKU) with PAH mutation.
- Trial name
- NCT07318909
- Testing
- GS1168 injection
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Gritgen Therapeutics Co., 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
Carrier of Phenylketonuria, Healthy
Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
The goal of this clinical trial is to advance our understanding of the cognitive and neurophysiologic sequelae associated with suboptimal phenylalanine (Phe) metabolism in heterozygous carriers of phenylketonuria (PKU).
- Trial name
- NCT07220265
- Testing
- Phenylalanine (Phe)
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Non-Phenylketonuric Hyperphenylalaninemia
Phenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICU
Hyperphenylalaninemia is not only present in patients with congenital phenylketonuria. In adults with critical illness, hyperphenylalaninemia is noted in some patients and is associated with high mortality rate.
- Trial name
- NCT04896281
- Testing
- Phenylalanine-free milk
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- Chang Gung Memorial Hospital
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
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.