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Can a photo help diagnose a rare brain disorder?

NCT ID NCT05600946

Recruiting now Knowledge-focused Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study looks at facial features of males aged 2 to 40 with creatine transporter deficiency (CTD), a genetic disorder that causes intellectual disability, seizures, and behavioral issues. Researchers will examine photos of participants to see if they share common facial traits that could help diagnose CTD. No treatments are being tested; this is purely an observational study to improve recognition of the condition.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to
If shared facial features are found, this could help doctors diagnose creatine transporter deficiency more easily and earlier.
What could go wrong
This is a very small observational study (19 people) looking only at appearance. It does not test any treatment, and findings may not apply to everyone with CTD.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

autism spectrum disorder cognitive disorder Cognitive Dysfunction creatine transporter deficiency learning disability metabolic disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

AUTISM SPECTRUM DISORDER COGNITIVE DISORDER METABOLIC DISEASE

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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