Clinical trials: Phenylketonuria
Phenylketonuria
Sapropterin in Individuals With Phenylketonuria
Investigators at Washington University will examine the effects of sapropterin (Kuvan) on brain and cognition in individuals with phenylketonuria (PKU) using neuropsychological and neuroimaging procedures.
- Trial name
- NCT00730080
- Testing
- Sapropterin (Kuvan)
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
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
Phenylketonuria
MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria
This is a study about the relationship of brain biomarkers with neuropsychological functioning in PKU. All participants will undergo MRI spectroscopy, will provide a blood specimen and will receive neuropsychological testing.
- Trial name
- NCT03097250
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Phenylketonuria
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria L-carnitine is mainly obtained from foods such as red meat and milk that are limited…
- Trial name
- NCT06901323
- Testing
- L-carnitine
- Where
- Egypt
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Phenylketonuria, Endothelial Dysfunction
Observational Study of Endothelial Dysfunction in Phenylketonuria
The purpose of this study is to determine whether adolescent and adult patients with phenylketonuria who are on long-term phenylalanine-restricted diet suffer from endothelial dysfunction.
- Trial name
- NCT02176603
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Charite University, Berlin, Germany
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
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
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
Nutritional and Neurotransmitter Changes in PKU Subjects on BH4
HYPOTHESIS: The investigators hypothesize that KuvanTM therapy could influence nutritional and body composition parameters and neurotransmitter concentrations in pediatric and adult PKU subjects.
- Trial name
- BH4&PKU (NCT00688844)
- Testing
- KuvanTM Therapy
- Where
- 2 sites in United States
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Emory University
Phenylketonurias
Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development.
The study aim is to follow up body growth(body weight by kg, length by cm, head circumference, abdominal circumference, and body mass index ) and mental development of infants on phenylalanine restricted diet in comparison with…
- Trial name
- NCT04302194
- Testing
- phenylalanine restricted diet
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Assiut University
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
PKU, Hyperphenylalaninemia
Antioxidant Signature in Adult Patients With Phenylketonuria
To date, oxidative stress in PKU has been evaluated only with fragmented approaches.The aim of the present study is to investigate oxidative stress in PKU with more comprehensive methods.The relationship between oxidative stress…
- Trial name
- StressOX-PCU (NCT02212288)
- Testing
- Blood sample, Urine sample
- Where
- France
- Volunteers
- 20 people, healthy volunteers welcome
- 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
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
Testing of Four Home Phenylalanine Monitoring Prototype Devices
The objective of this study is to test four home phenylalanine monitoring prototype devices, selected out of a pool of candidates by the National PKU Alliance Scientific Committee.
- Trial name
- NCT02445521
- Where
- 3 sites in United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Emory University
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
Phenylketonurias
The Effect of Nursing Empowerment Program
The study has shown that the strengthening program applied to the families of children diagnosed with phenylketonuria (PKU) and the education given; It will be conducted in order to examine the effect of the family's coping…
- Trial name
- NCT05497050
- Testing
- Family education
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Cukurova 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
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege