Clinical trials: Creatine Transporter Deficiency
Cognitive Disorder, Metabolic Disease
Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
Background: Creatine transporter deficiency (CTD) is a genetic disorder that mainly affects the brain in males. CTD causes intellectual disability that can be mild to severe.
- Conditions
- Cognitive Disorder, Metabolic Disease, Autism Spectrum Disorder
- Trial name
- NCT05600946
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Creatine Transporter Defect
Relevant Outcome Measures for Creatine Transporter Deficiency Patient
Creatine transport deficiency (CTD) is a rare genetic disorder related to pathogenic variants in the SLC6A8 gene, located on chromosome Xq28.
- Trial name
- CREAT_criteria (NCT06018519)
- Testing
- Clinical endpoints, Parental questionnaires, Quality of life scale
- Where
- France
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
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
Creatine Deficiency, X-linked
Observational Study of Males With Creatine Transporter Deficiency
The objectives of this study are to illustrate the clinical, neuro/electrophysiologic, biochemical, and developmental status and progression of patients with Creatine Transporter Deficiency (CTD) and to evaluate the utility of…
- Trial name
- Vigilan (NCT02931682)
- Where
- 10 sites in United States, Canada
- Volunteers
- 50 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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
Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome
Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
Background: Neurocognitive disorders affect how the brain uses oxygen. They may affect mental development in children. These disorders can be studied with imaging scans that use radiation; however, these methods are not ideal for…
- Conditions
- Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
- Trial name
- NCT05642221
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Intellectual Disability, Developmental Delay
Biomarker for Creatine Deficiency Syndromes (BioCDS)
Development of a new mass spectrometry-based biomarker for the ear-ly and sensitive diagnosis of the Creatine Deficiency Syndromes from dry-blood-spot sample
- Conditions
- Intellectual Disability, Developmental Delay, Movement Disorder, Behavioral Disorder
- Trial name
- BioCDS (NCT02934854)
- Where
- 4 sites in Egypt, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock