Can a photo help diagnose a rare brain disorder?
NCT ID NCT05600946
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.
Disclaimer
Read more
Show less
This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for METABOLIC DISEASE are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Study contacts
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
-
National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••