Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
Recruiting
Observational Study
Cognitive Disorder
Metabolic Disease
Autism Spectrum Disorder
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 2 – 40
- Sex
- Male
- Study type
- Observational
- Participants needed
- 19 (estimated)
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · NIH
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About This Trial
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. People with CTD may have seizures and behavioral issues. They may have slow growth and tire easily. CTD may sometimes be confused with autism or other disorders. Better diagnostics are needed. The study team in an NIH study …
Trial Locations
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Eligibility Criteria
* INCLUSION CRITERIA:
1. Patient is male and between 2-40 years of age, inclusive.
2. Patient has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
3. Patient is able to complete study-related procedures within limitations imposed by condition under study.
4. Patients parent…
Contacts