Light-Based brain scan could revolutionize diagnosis of rare genetic disorders
NCT ID NCT06868979
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study is testing whether a non-invasive brain imaging technique called fNIRS can reliably measure brain function in people with Fragile X syndrome or Creatine Transporter Deficiency. Researchers will use a cartoon-based visual stimulus to record brain activity and compare it with clinical assessments. The goal is to develop an objective biomarker to aid diagnosis and evaluate future treatments. The study enrolls 118 participants aged 5 to 35.
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 successful, this could provide a simple, non-invasive brain scan to help diagnose and monitor treatment effects in Fragile X and Creatine Transporter Deficiency.
What could go wrong
This is an early-stage observational study, not a treatment trial. The imaging method may not prove reliable enough for clinical use, and results may not apply to all patients.
Disclaimer
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the original study
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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.
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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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Woman, mother and child hospital, Hospices Civils de Lyon
RECRUITINGBron, 69500, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact