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NCT Number: NCT05600946

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....

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Key information

Conditions

Cognitive Disorder Autism Spectrum Disorder Child Development Disorders, Pervasive Cognition Disorders Cognitive Dysfunction Communication Disorders Learning Disabilities Mental Disorders Metabolic Disease Metabolic Diseases Nervous System Diseases Neurobehavioral Manifestations Neurocognitive Disorders Neurodevelopmental Disorders Neurologic Manifestations Nutritional and Metabolic Diseases Pathological Conditions, Signs and Symptoms Signs and Symptoms

Age range

2 year–40 year

Sex eligibility

Male

Study type

Observational

Primary location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location status: Recruiting

About this study

Study Description:

The purpose of this study is to evaluate photographs of subjects enrolled in Creatine Natural History Study of Males with Creatine Transporter Deficiency (CTD) based on our observation that many of these subjects have common craniofacial features. This will involve the participation of an outside investigator who has significant expertise in dysmorphology. We seek to determine whether specific dysmorphic features exist in this population.

Objectives:

Primary Objective: To characterize the dysmorphic features in subjects with CTD

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Exclusion criteria

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.

Treatment and study plan

Primary outcomes

dysmorphic features

Time frame: 3 years

To characterize the dysmorphic features in subjects with CTD

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Sponsors and collaborators

Lead sponsor

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

Nih

Collaborators

McMaster University, Ontario, Canada

Registry information

Important dates

Study start: 2022
Primary completion: 2027
Study completion: 2027
First posted: Nov 1, 2022
Registry last updated: Sep 16, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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