Clinical trials: Phenylketonurias
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 (PKU)
A Study of MZE782 in Adults With PKU
The purpose of this study is to evaluate the safety, tolerability, and efficacy of MZE782 in adults with Phenylketonuria (PKU).
- Trial name
- CIPheR (NCT07694440)
- Testing
- MZE782
- Where
- 9 sites in United States, France and 1 more
- Volunteers
- 38 people
- Sponsor
- Maze Therapeutics
Phenylketonuria
Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU)
This study is an international, multi-center, randomized, double-blind, placebo-controlled, two-treatment, two-period cross-over study to evaluate the pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral…
- Trial name
- NCT04085666
- Testing
- CDX 6114
- Where
- 2 sites in Australia, Germany
- Volunteers
- 18 people
- Sponsor
- Société des Produits Nestlé (SPN)
Phenylketonuria, PKU
Moderate Intensity Exercise and Phenylketonuria
Phenylketonuria (PKU), an inherited genetic disorder, can cause irreversible brain damage, declined executive function, and autistic tendencies unless a phenylalanine (Phe) restricted diet is consistently maintained throughout…
- Trial name
- NCT01904708
- Testing
- Acute Moderate Intensity Exercise
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Oregon Health and Science University
Phenylketonurias
Short-term Effects of Good Metabolic Control on Cognitive Function, Wellbeing, and Metabolic Parameters in Adult Patients With Phenylketonuria
The goal of this study is to evaluate if in adult patients with phenylketonuria (PKU) without strict metabolic control during the last 12 months, strict metabolic control for 8 weeks results in an improvement of cognitive…
- Trial name
- NCT04210206
- Testing
- PHE-diet
- Where
- Germany
- Volunteers
- 13 people
- Sponsor
- Klaus Parhofer
Phenylketonuria
Liver Cell Transplant for Phenylketonuria
Human phenylketonuria (PKU) results from phenylalanine hydroxylase (PAH) deficiency, and represents one of the most common and extensively studied single-gene Mendelian disorders in humans.
- Trial name
- NCT01465100
- Testing
- Preparative Radiation Therapy, Hepatocyte Transplant, Immunosuppression
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Ira Fox
Psychological Well-Being, Caregiver Burden
The Struggle That Is Phenylketonuria : What Do The Patients and Caregivers Suffer From
Objective: To assess the stress levels and life hardships of phenylketonuria patients and their parents.
- Conditions
- Psychological Well-Being, Caregiver Burden, Life Stress
- Trial name
- NCT06280261
- Testing
- parenting stress index, Zarit burden scale, Rosenberg self esteem scale, stait trait anxiety inventory, struggles and difficulties questionnaire
- Where
- Turkey (Türkiye)
- Volunteers
- 156 people
- Sponsor
- Hacettepe University
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
PKU, Hyperphenylalaninemia
Study of a National Cohort of Adult Patients With Phenylketonuria
Phenylketonuria (PKU) is a metabolic disease of genetic origin. This is a rare disease (incidence 1 / 16000 births) which is the subject of a systematic neonatal screening in France, because it is treatable by a diet low in…
- Trial name
- ECOPHEN (NCT01619722)
- Where
- 16 sites in France
- Volunteers
- 220 people
- Sponsor
- University Hospital, Tours
Phenylketonuria (PKU)
Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis
Low-phenylalanine diets are commonly prescribed to people with phenylketonuria (PKU), an inborn disease which causes accumulation of amino acid phenylalanine (Phe) in the blood.
- Trial name
- NCT02440932
- Testing
- Phenylketonuria-type diet, Normal (control) diet
- Where
- United Kingdom
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- University of Glasgow
Alcohol Dependence
Stress, Hypothalamic-pituitary-adrenal (HPA) Dysfunction, and Relapse in Alcoholism
This proposal is part of the INIA Stress Consortium. This study will 1. explore the contributions of lifetime trauma, recent stress, and alcohol use on stress-hormone axis disruption in treatment seeking, one-month abstinent…
- Trial name
- NCT00744588
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- University of Texas Southwestern Medical Center
Phenylketonuria, Inborn Errors of Metabolism
Evaluation of PKU Explore
To evaluate the acceptability, tolerance and effect on metabolic control of PKU Explore, a renovated Phe free protein substitute for the dietary management of PKU in children from 6 months to 5 years.
- Trial name
- PKU Explore (NCT03168399)
- Testing
- PKU Explore
- Where
- 3 sites in United Kingdom
- Volunteers
- 22 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonurias, Hyperphenylalaninaemia
Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of Phenylketonuria
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of phenylalanine-free protein substitute tablets for young children with PKU aged of 7 years or older.
- Conditions
- Phenylketonurias, Hyperphenylalaninaemia, Tetrahydrobiopterin Deficiency
- Trial name
- NCT04375592
- Testing
- Phenylalanine-free protein substitute in tablet form (XPhe minis)
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Phenylketonurias
Bone Mineral Density in Adults With Hyperphenylalaninemia
Hyperphenylalaninemia (HPA) is a rare metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). Elevated plasma levels of phenylalanine (phe) cause mental retardation, microcephaly, delayed speech…
- Trial name
- NCT01209819
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- The University of Texas Health Science Center, Houston
Brain Diseases, Brain Diseases, Metabolic
Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria
The overall aim of this study is to evaluate LNAA treatment as a potential alternative to conventional dietary treatment for PKU.
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Genetic Diseases, Inborn
- Trial name
- NCT06337864
- Testing
- PreKUnil® LNAA Medical Food for PKU
- Where
- 2 sites in Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Phenylketonuria
GenSci144 Tablets Phase I Clinical Trial
This study is a Phase I single ascending dose clinical trial in which healthy adult volunteers were administered single oral doses of GenSci144 tablets at different levels.
- Trial name
- NCT07685210
- Testing
- GenSci144 tablets
- Where
- China
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Changchun GeneScience Pharmaceutical Co., Ltd.
Phenylketonurias
PheCheck Feasibility Study
The goal of this feasibility study clinical trial is to compare the accuracy of PheCheck™ for the rapid quantitative detection of phenylalanine (Phe) with the gold standard (HPLC amino acid analyzer), in patients with PKU.
- Trial name
- NCT05998109
- Testing
- PheCheck™, HPLC Amino Acid Analyzer, Dried Blood Spot Cards
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Lumos Diagnostics
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
Simplified Diet Approach in Phenylketonuria
This is a study to determine if a simplified protein counting system, including the free usage of fruits and vegetables low in phenylalanine, will improve the metabolic control in teens and adults with phenylketonuria (PKU).
- Trial name
- NCT02555579
- Testing
- Dietary Protein Counting and Free Fruits and Vegetables
- Where
- 4 sites in United States
- Volunteers
- 33 people
- Sponsor
- University of Nebraska
Adult Phenylketonuria Non Treated Patients
Glytactin EfficiEncy in Non or Insufficiently Treated Adult PHENylketonuria Patients
Phenylketonuria is the most common inherited metabolic disease in France and is screened for neonatal exposure. Management consists of a strict and restrictive hypoproteic diet and the intake of amino acid substitutes and dietary…
- Trial name
- GLEEPHEN (NCT03924180)
- Testing
- Dietary Supplement for PKU patients
- Where
- 7 sites in France
- Volunteers
- 13 people
- Sponsor
- University Hospital, Tours