NCT05600946 Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
| NCT ID | NCT05600946 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
| Condition | Cognitive Disorder |
| Study Type | OBSERVATIONAL |
| Enrollment | 19 participants |
| Start Date | 2022-10-24 |
| Primary Completion | 2026-09-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 19 participants in total. It began in 2022-10-24 with a primary completion date of 2026-09-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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....
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.
Contact & Investigator
Laverne G Mensah, M.D.
PRINCIPAL INVESTIGATOR
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Frequently Asked Questions
Who can join the NCT05600946 clinical trial?
This trial is open to male participants only, aged 2 Years or older, up to 40 Years, studying Cognitive Disorder. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05600946 currently recruiting?
Yes, NCT05600946 is actively recruiting participants. Contact the research team at derek.alexander@nih.gov for enrollment information.
Where is the NCT05600946 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT05600946 clinical trial?
NCT05600946 is sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The principal investigator is Laverne G Mensah, M.D. at Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The trial plans to enroll 19 participants.