Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency

NCT05600946 | Recruiting

• 2 other identifiers: 10001074001074-CH
• Study Type: observational
• Target: 19
• Locations: 1 country
• Sites: 1

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....

Conditions

Cognitive Disorder; Metabolic Disease; Autism Spectrum Disorder

Keywords

Developmental Delay; Autism Spectrum Disorder; Children; Natural History

Outcome Measures

Primary Outcomes (1)

• dysmorphic features

  To characterize the dysmorphic features in subjects with CTD

  3 years

Study Arms (1)

Patients

Affected individuals that meet inclusion criteria

Eligibility Criteria

• Age: 2 Years - 40 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Creatine Transport Deficiency

You may qualify if:

• 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.

You may not qualify if:

• Patient has had status epilepticus within 3 months of screening.
• 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.

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead
• McMaster University, Ontario, Canada: collaborator

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Cognitive Dysfunction; Metabolic Diseases; Autism Spectrum Disorder; Learning Disabilities

Condition Hierarchy (Ancestors)

Cognition Disorders; Neurocognitive Disorders; Mental Disorders; Nutritional and Metabolic Diseases; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Laverne G Mensah, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Derek M Alexander

CONTACT

(301) 827-0387; derek.alexander@nih.gov

Laverne G Mensah, M.D.

CONTACT

(301) 480-6759; laverne.mensah@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 27, 2022
• First Posted: November 1, 2022
• Study Start: October 24, 2022
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: September 16, 2025

Record last verified: 2025-05-02

Locations

US (1)