Clinical trials: Phenylketonurias
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
Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003)
This study is an extension of previous rAvPAL-PEG studies. Administration of rAvPAL-PEG will be continued to assess whether long-term dosing of rAvPAL-PEG is safe and can maintain reduced blood Phe concentrations in PKU subjects.
- Trial name
- NCT00924703
- Testing
- rAvPAL-PEG
- Where
- 14 sites in United States
- Volunteers
- 68 people
- Sponsor
- BioMarin Pharmaceutical
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
Phenylketonuria (PKU)
Evaluation of BH4 Responsiveness in Our PKU Patients
This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype
- Trial name
- NCT07255599
- Testing
- Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)
- Where
- Egypt
- Volunteers
- 20 people
- Sponsor
- Sohag University
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
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 (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
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
Phenylketonuria
Study of Low-grade Systemic Inflammation in Adult Patients With Phenylketonuria
Patient suffering from phenylketonuria have chronic hyperphenylalaninemia. Hyperphenylalaninemia is known to be toxic to central nervous system and cardiovascular system in particular through oxydative stress.
- Trial name
- INGRAPH (NCT04879277)
- Testing
- Blood samples
- Where
- 2 sites in France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University Hospital, Tours
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
Phenylketonurias, PAH Deficiency
Gene Therapy Clinical Study in Adult PKU
This is a Phase 1/2, open-label, randomized, concurrently-controlled, dose escalation study to evaluate the safety and efficacy of HMI-102 in adult PKU subjects with PAH deficiency.
- Trial name
- pheNIX (NCT03952156)
- Testing
- HMI-102
- Where
- 13 sites in United States
- Volunteers
- 10 people
- Sponsor
- Homology Medicines, Inc
Phenylketonuria, Hyperphenylalaninemia
Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Phenylketonuria (PKU) is a rare disease where the level of phenylalanine (one of the amino acids) in the body is greatly increased. High levels can cause brain damage, especially in babies and children.
- Trial name
- NCT01869972
- Where
- 2 sites in Canada
- Volunteers
- 32 people
- Sponsor
- Hamilton Health Sciences Corporation
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
Evaluation of PKU Explore France
PKU explore France is an exploratory study to evaluate the acceptability of PKU explore, a food for special medical purposes, for use in the dietary management of phenylketonuria in infants from 6 months to 3 years of age…
- Trial name
- NCT04898829
- Testing
- PKU explore
- Where
- France
- Volunteers
- 7 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonuria
Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
The aim of this pilot study is to determine if there are any changes in brain glucose metabolism in the gray matter of patients with Phenylketonuria (PKU) and whether administration of Sapropterin (KUVAN) therapy can improve such…
- Trial name
- PKU (NCT00986973)
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Children's Hospital of Philadelphia
Phenylketonuria (PKU)
Body Composition, Energy Intake and Expenditure in People With Phenylketonuria
This will be case-control study investigating whether dietary intake and components of energy expenditure such as Basal metabolic rate (BMR), physical activity energy expenditure (PAEE) and diet induce thermogenesis (DIT) are…
- Trial name
- NCT03309345
- Testing
- No intervention
- Where
- United Kingdom
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- University of Glasgow
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
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
Inborn Errors of Metabolism, Urea Cycle Disorder
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting…
- Conditions
- Inborn Errors of Metabolism, Urea Cycle Disorder, Maple Syrup Urine Disease, Phenylketonurias
- Trial name
- MetaPROM (NCT04248062)
- Testing
- Survey
- Where
- Switzerland
- Volunteers
- 69 people
- Sponsor
- University Children's Hospital, Zurich
Phenylketonurias
Amino Acid Kinetics of GMP-AA in Healthy Human Volunteers
Children with phenylketonuria (PKU) are treated with a special diet supplemented with a synthetic protein based on amino acids. These have a poor taste and are inefficiently used by the body.
- Trial name
- NCT05971563
- Testing
- Casein, L-amino acids, CGMP-AA
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust