Actively Recruiting
Characterization of Dysmorphology in Males with Creatine Transporter Deficiency Using Photographic Analysis
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-06-04
19
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
E
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Lead Sponsor
M
McMaster University, Ontario, Canada
Collaborating Sponsor
AI-Summary
What this Trial Is About
Creatine transporter deficiency (CTD) is a genetic disorder affecting mainly males, causing intellectual disability ranging from mild to severe, seizures, behavioral challenges, slow growth, and fatigue. This study aims to identify shared facial features in males aged 2 to 40 years with CTD to help improve diagnosis, as some symptoms may be confused with autism or other disorders. An expert in dysmorphology will examine photos and participant data collected during a previous study to find common traits. Participants include males with CTD who have genomic confirmation of a mutation in the SLC6A8 gene. The study involves reviewing photographs taken previously or newly provided by parents either through a secure portal or during clinic visits. The expert will analyze these photos for dysmorphic features, which may also be published in clinical journals with separate consent. This observational study does not involve treatments but focuses on characterizing physical traits associated with CTD. During the study, participant data such as diagnostic images and lab results may be shared with the expert. The main outcome measure is the identification and description of dysmorphic features over a three-year period. Participants and their families will provide consent, and the study monitors adherence to procedures while ensuring safety. The total participation length and detailed follow-ups are designed to support this natural history evaluation of CTD.
CONDITIONS
Brief Title
Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patient is male and between 2 to 40 years of age, inclusive
- Patient has genomic confirmation of a pathologic mutation in the SLC6A8 gene
- Patient is able to complete study-related procedures within limitations imposed by condition under study
- Patient's parents, guardians, or caregivers provide written informed consent; patient assent if appropriate
You will not qualify if you...
- Patient has had status epilepticus within 3 months of screening
- Patient has had a seizure lasting 5 minutes or longer, followed by a second seizure without regaining consciousness, or repeated seizures for 30 minutes or longer
- Patient is unable to comply with study procedures or has a clinical disease or laboratory abnormality that may increase the risk of participation according to investigator's opinion
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 3 years
Participants provide photographs for analysis to characterize dysmorphic features associated with Creatine Transporter Deficiency.
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
D
Derek M Alexander
L
Laverne G Mensah, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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