Examining facial features in boys with creatine transporter deficiency

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to evaluate photographs of male subjects aged 2 to 40 years with creatine transporter deficiency (CTD) to identify common craniofacial features associated with the condition. The study involves collaboration with an expert in dysmorphology who will analyze the images to determine if specific dysmorphic traits are present in this population. By characterizing these features, the study seeks to improve diagnostic accuracy for CTD, which can often be confused with other disorders such as autism. Participants must have a confirmed genetic mutation in the SLC6A8 gene and provide informed consent.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Laverne G Mensah, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Study coordinator: Derek M Alexander
• Email: derek.alexander@nih.gov
• Phone: (301) 827-0387

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.