Actively Recruiting
Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2025-09-16
19
Participants Needed
1
Research Sites
201 weeks
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
Background: Creatine transporter deficiency (CTD) is a genetic disorder that mainly affects the brain in males. CTD causes intellectual disability that can be mild to severe. People with CTD may have seizures and behavioral issues. They may have slow growth and tire easily. CTD may sometimes be confused with autism or other disorders. Better diagnostics are needed. The study team in an NIH study noted that the faces of children with CTD can look similar. For this natural history study, an expert will examine photos of children with CTD. Any shared traits found might help to diagnose CTD. Objective: To look for shared facial features of children with CTD. Eligibility: Males aged 2 to 40 years old with CTD who were in study 17-CH-0020. Design: Some participants in study 17-CH-0020 had pictures taken of their faces. The NIH study team wants to share these photos with a colleague in Canada. This person is an expert at evaluating how genetic disorders affect people s bodies. Participant data collected during the study may also be sent to this expert. This data may include diagnostic images and results from lab tests. Some children did not have their pictures taken during study 17-CH-0020. Parents are asked to take pictures of these children and send them to the study team. These photos can be sent to a secure portal. The photos can also be taken in-person during a clinic visit. The photos may be printed in clinical study journals. But this is not required. Parents will be asked to sign a separate consent before the photos are published....
CONDITIONS
Official 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 2-40 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
- Patients parents/guardians/caregivers must provide written consent, and if appropriate, the patient will provide assent
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 lasting 30 minutes or longer
- Patient is unable to comply with the study procedures or has a clinical disease or laboratory abnormality that increases the risk of participation in the opinion of the investigator
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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
CONTACT
L
Laverne G Mensah, M.D.
CONTACT
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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