Characterizing Facial Features in Creatine Transporter Deficiency
This study aims to identify common facial features (dysmorphic features) in males with Creatine Transporter Deficiency (CTD). CTD is a genetic disorder that mainly affects the brain, causing intellectual disability, seizures, and behavioral issues. Researchers have observed that children with CTD often have similar facial characteristics. By having an expert examine photographs of participants, this study hopes to find shared traits that could help diagnose CTD earlier. You may be able to join if you are a male between 2 and 40 years old, have a confirmed genetic mutation in the SLC6A8 gene (which causes CTD), and were previously part of study 17-CH-0020. The study will measure these dysmorphic features at 3 years.
- Study design
- This is an observational study that plans to enroll 19 male participants. It is not a drug trial, but rather focuses on observing and characterizing specific physical traits.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- Dysmorphic features will be measured at 3 years.
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Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Laverne G Mensah, M.D. · PRINCIPAL_INVESTIGATOR · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Who to contact
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What this trial measures
- dysmorphic features3 years
To characterize the dysmorphic features in subjects with CTD