Clinical trials: Phenylketonuria
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
Nutritional Deficiencies, Phenylketonuria
Follow-up of Adult Phenylketonuria (PKU) Patients
Adult patients with phenylketonuria (PKU) at the age around 40 years belong to the first patients generation with early treatment of the disease.
- Trial name
- NCT01096758
- Where
- Germany
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Ludwig-Maximilians - University of Munich
Phenylketonuria
The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)
The objective of the study is to determine whether Kuvan™ (sapropterin) improves the strength of the functional connectivity between brain regions in individuals with PKU.
- Trial name
- NCT00964236
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Phenylketonurias
Remote Neurocognitive and Psychological Assessment in PKU
PKU is a rare autosomal recessive condition associated with disruption in dopamine synthesis. Although early diagnosis and treatment prevent the severe impairments associated with untreated PKU, individuals with early-treated PKU…
- Trial name
- NCT04943393
- Testing
- nointervention
- Where
- 2 sites in United States
- Volunteers
- 84 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
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
The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria
Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly…
- Trial name
- NCT02297347
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
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.
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
COPD, Tetrahydrobiopterin Deficiency
O2 Transport and Utilization in Health and Lung Disease
Skeletal muscle dysfunction is a frequent and clinically relevant systemic manifestation of Chronic Pulmonary Obstructive Disease (COPD), which is still poorly understood.
- Conditions
- COPD, Tetrahydrobiopterin Deficiency, Oxidative Stress
- Trial name
- NCT04014712
- Testing
- Tetrahydrobiopterin
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Massachusetts, Amherst
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
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
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
Cerebral Palsy (CP)
Go For It: to Improve Levels of Daily Physical Activity and to Reduce the Sedentary Life Style of Adolescents With CP
Long hours of daily sitting and lack of Physical Activity (PA) are risk factors for morbidity and mortality. People with movement disabilities, including adolescents with Cerebral Palsy (CP) tend to lead a sedentary life styl and…
- Trial name
- NCT02978469
- Testing
- Life style changing: reducing sedentary behavior
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Assaf-Harofeh Medical Center
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
A Trial to Examine if Repinatrabit is Processed Differently in Adults With Reduced Liver or Kidney Function Compared to Adults With Normal Liver and Kidney Function
This trial is intended to understand how the body processes repinatrabit in people with moderate liver impairment and severe kidney impairment and also to compare these results with people of similar age, weight, and sex who have…
- Trial name
- NCT07713758
- Testing
- Repinatrabit
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Phenylketonuria
A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects
Sapropterin dihydrochloride (subsequently referred to as sapropterin) (Kuvan®) was approved by the FDA for the treatment of hyperphenylalaninemia in 2007.
- Trial name
- NCT00789568
- Testing
- sapropterin dihydrochloride, Moxifloxacin
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- BioMarin Pharmaceutical
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, 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