Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency

Launched by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (NICHD) · Oct 31, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a condition called creatine transporter deficiency (CTD), which is a genetic disorder that primarily affects boys and can lead to challenges like intellectual disability, seizures, and behavioral issues. The researchers want to find out if there are specific facial features that are common among children with CTD. By examining photos of these children, they hope to improve the way CTD is diagnosed, as it can sometimes be mistaken for other disorders like autism.

To be eligible for this study, boys aged 2 to 40 years who have been confirmed to have a genetic mutation related to CTD can participate. Parents or guardians will need to provide consent for their child's involvement. Participants will have their photos reviewed, and some may even need to submit new pictures if they weren’t taken during a previous study. The study team will ensure that any photos shared are done securely and will ask for permission before using them in publications. Overall, the study aims to enhance understanding of CTD, which could lead to better support for those affected.

Gender

MALE

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 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.