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Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency

Recruitingn/aAges 2 Years - 40 YearsMaleEunice Kennedy Shriver National Institute of Chil…
NCT05600946 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 noted that the faces of children with CTD can look similar. For this natural history study, an expert will examine photos of children with CTD. Any shared traits found might help to diagnose CTD. Objective: To look for shared facial features of children with CTD. Eligibility: Males aged 2 to 40 years old with CTD who were in study 17-CH-0020. Design: Some participants in study 17-CH-0020 had pictures taken of their faces. The NIH study team wants to share these photos with a colleague in Ca

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📋 Eligibility rules (as published)
* 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 parents/guardians/caregivers must provide written consent (informed consent) to study-related procedures, and if appropriate, the patient will provide an assent. EXCLUSION CRITERIA: 1. Patient has had status epilepticus within 3 months of screening. 2. Patients has had a seizure that lasts 5 minutes or longer, and a second seizure without recovering consciousness from the first one, or if a person has repeated seizures for 30 minutes or longer. 3. Patient is unable to comply with the study procedures or has a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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