Clinical trials: PKU
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
Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare genetic condition. If not treated, PKU can cause severe mental retardation. Women with PKU are advised to eat a special diet when pregnant to prevent mental retardation in their children.
- Trial name
- NCT00065299
- Testing
- Restricted phenylalanine diet
- Where
- 3 sites in United States
- Volunteers
- 572 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Phenylketonurias
PKU Skin Stripping
PURPOSE OF STUDY: To determine if a non-invasive skin stripping technique can be used to detect individuals with phenylalanine abnormalities, and to monitor dietary and/or drug effects over time.
- Trial name
- NCT04368624
- Testing
- Skin Tape, Blood Draw
- Where
- United States
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
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
Phenylketonuria
Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
The purpose of this study is to determine whether tetrahydrobiopterin (BH4)is effective in treating patients with PKU.
- Trial name
- NCT00244218
- Testing
- tetrahydrobiopterin (BH4)
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- The University of Texas Medical Branch, Galveston
Phenylketonuria, Galactosemia
The Early History of Universal Screening for Metabolic Disorders
We are doing this study to learn more about the early history of universal screening for metabolic disorders such as PKU and galactosemia.
- Conditions
- Phenylketonuria, Galactosemia, Inborn Errors of Metabolism
- Trial name
- NCT00309400
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Miami
Phenylketonuria
Phenylketonuria, Oxidative Stress, and BH4
The purpose of this study is to see how tetrahydrobiopterin therapy (BH4; also known as sapropterin dihydrochloride or Kuvan) affects measures of oxidative stress and endothelial function in patients with Phenylketonuria (PKU).
- Trial name
- NCT01395394
- Testing
- Kuvan, Meal Challenge
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Emory University
Phenylketonuria, Behavior and Behavior Mechanisms
Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders
This observational study seeks to establish evidence: 1. that physiologic changes, unrelated to effect on the Phenylalanine Hydroxylase (PAH) enzyme, occur in Phenylketonuria (PKU) patients who are treated with sapropterin…
- Conditions
- Phenylketonuria, Behavior and Behavior Mechanisms, PAH Gene Expression
- Trial name
- IST (NCT01274026)
- Testing
- sapropterin dihydrochloride
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Tulane University School of Medicine
Infant Pain Management, Parent-driven Pain Management
Parents as Pain Management in Swedish Neonatal Care
Parents are a valuable but underused resource in neonatal pain management. In the Nordic countries, family-centred neonatal care has come a long way in welcoming and including parents in the everyday care of their infant.
- Trial name
- NCT04341194
- Testing
- Parent-driven pain management with skin-to-skin contact, Parent-driven pain management with skin-to-skin contact/breastfeeding/parental singing
- Where
- 4 sites in Sweden
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Värmland County Council, Sweden
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
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
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
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 (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 (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
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
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
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
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