Light-Based brain scan could revolutionize diagnosis of rare genetic disorders

NCT ID NCT06868979

Recruiting now Diagnosis Sponsor: Hospices Civils de Lyon Source: ClinicalTrials.gov ↗

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.

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Conditions

The condition(s) this trial relates to.

creatine transporter deficiency fragile X syndrome

As listed by the trial registrant

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

CREATINE TRANSPORTER DEFICIENCY FRAGILE X SYNDROME (FXS)

Contacts and locations

Locations

Woman, mother and child hospital, Hospices Civils de Lyon
RECRUITING

Bron, 69500, France

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