Examining facial features in boys with creatine transporter deficiency
Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
This study looks at photos of boys and young men with creatine transporter deficiency to see if they share certain facial features that could help doctors diagnose the condition more accurately.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 19 (estimated) |
| Ages | 2 Years to 40 Years |
| Sex | Male |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT05600946 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are males aged 2 to 40 years who have a confirmed genetic mutation in the SLC6A8 gene and are enrolled in the Creatine Natural History Study.
Not a fit: Patients who have experienced status epilepticus within the last three months or have severe seizure disorders may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic methods for creatine transporter deficiency, aiding in earlier and more accurate identification of affected individuals.
How similar studies have performed: While this approach is focused on dysmorphology in CTD, similar studies have shown success in identifying facial features associated with other genetic disorders, suggesting potential for meaningful findings.
Eligibility criteria
Show full inclusion / exclusion 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 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 this trial is running
Bethesda, Maryland
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.