Studies facial features in males with creatine transporter deficiency
Looks for shared facial features in males aged 2 to 40 with creatine transporter deficiency.
Plain-language title generated from the registry record
Registry title: Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
Key facts
- Where
- Bethesda, United StatesSee the site
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 2 and 40 years old?
Source: NCT05600946, who can take part
Where in United States
- National Institutes of Health Clinical CenterBethesda, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Trial code
- NCT05600946
- Record updated
- 16 September 2026
- Original description
Background:Read full original descriptionShow less
Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
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....
Exclusion: 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; 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; Patient has had status epilepticus within 3 months of screening.
INCLUSION CRITERIA:; 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 (informed consent) to study-related procedures, and if appropriate, the patient will provide an assent.