Optical brain imaging for X-linked intellectual disabilities
Official title: Optical Imaging as a Diagnostic Tool for Monitoring Brain Function in X-linked Rare Disorders
Run by Hospices Civils de Lyon · NCT06868979 · Data updated 2026-11-12
This project will try using noninvasive optical brain imaging (fNIRS) together with cognitive tests in males aged 5–35 who have Fragile X syndrome or creatine transporter deficiency to look for patterns of brain function.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 5 Years to 60 Years |
| Sex | All |
| Enrollment | 118 (estimated) |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 1 site (Bron) |
| Status | Recruiting |
| Started | March 30, 2026 |
| Main results expected | March 2029 |
| Study ends | March 2029 |
| Registry record updated | May 15, 2026 |
| Trial ID | NCT06868979 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are French-speaking males aged 5–35 with a confirmed full mutation in FMR1 (>200 CGG repeats) or a confirmed SLC6A8 mutation, who can give consent or have a parent/guardian provide consent and are affiliated with the French national health insurance.
✕Probably not a fit
Females, individuals outside the 5–35 age range, non–French speakers, those without genetic confirmation, or people unable to complete fNIRS or cognitive testing are unlikely to receive direct benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This interventional protocol combines functional near-infrared spectroscopy (fNIRS) with clinical, cognitive and reasoning assessments and parental questionnaires to characterize brain activity in affected males and age-matched male controls. Participants undergo standardized cognitive tests and fNIRS recordings during tasks to capture functional brain signatures linked to synaptic connectivity and brain energetics. The study targets males aged 5–35 with genetically confirmed Fragile X full mutation or SLC6A8 mutations and compares them to chronological controls. All visits take place at the Hospices Civils de Lyon site and require French as the maternal language.
Why it matters
Potential benefit: If successful, the work could provide an objective, noninvasive biomarker of brain function that helps track disease features and guide future treatments for these X-linked conditions.
How similar studies have gone: Previous small studies have applied fNIRS and other functional imaging to neurodevelopmental disorders with promising preliminary findings, but this approach remains exploratory for Fragile X and creatine transporter deficiency.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria : CTD male patients : * male * having a confirmed mutation in the SLC6A8 gene * ≥ 5 to ≤ 35 years old * whose maternal language is French, * having signed the informed consent and/or for whom parents (for children)/legal guardian (for protected adults) have signed the informed consent. * affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system CTD female patients : * female CTD patients having a confirmed mutation in the SLC6A8 gene, * aged \> 5 to \< 60 years, * whose maternal language is French (for the patients included in France), * having signed the informed consent and/or for whom parents (for children)/legal guardian (for protected adults) have signed the informed consent. * affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system FXS patients : * male * having a confirmed full mutation in the FMR1 gene (\>200 GCC repeats) * ≥ 5 to ≤ 35 years old * whose maternal language is French, * having signed the informed consent and/or for whom parents (for children)/legal guardian (for protected adults) have signed the informed consent. * affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system Sex- and chronological age-matched male controls : * male * ≥ 5 to ≤ 35 years old * whose maternal language is French, * having signed the informed consent and/or for whom parents have signed the informed consent. * affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system Sex- and chronological age-matched female controls : * female, * aged \> 5 to \< 60 years * whose maternal language is French (for the patients included in France), * having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent. * affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system. Each CTD patient will be matched to a sex- and chronological age-matched control. Exclusion Criteria: CTD male and female patients : * Refusal of the subject and/or the subject's parents/legal guardian to sign the informed consent * Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected during the neuropsychological assessment. FXS patients : * Refusal of the subject and/or the subject's parents/legal guardian to sign the informed consent * Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected during the neuropsychological assessment. Sex- and chronological age-matched male and female controls : * Refusal of the subject and/or the subject's parents/legal guardian to sign the informed consent * Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected during the neuropsychological assessment. * History of neurological or psychiatric disorder, * Repetition of a grade, * Learning disability requiring rehabilitation (speech therapy, psychomotor or oculomotor therapy).
Where it's running
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Woman, mother and child hospital, Hospices Civils de Lyon
Bron, France Recruiting
Study contacts
- Study coordinator: Aurore CURIE, Dr
- Email: Aurore.curie@chu-lyon.fr
- Phone: +336 70 62 69 76
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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CTH120 in Fragile X syndrome: safety and early effectiveness in adult males
This study tests CTH120 versus placebo to see if it is safe and helps adults with Fragile X syndrome.
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Two-week intensive brain-focused therapy program for children with neurodevelopmental and chromosomal conditions
This program will try a two-week, individualized multimodal neurorehabilitation approach for children about 4–12 years old with neurodevelopmental or chromosomal conditions to see if it improves attention, motor skills, communication, and daily functioning.
-
Trust in people with intellectual disability: a look at Down syndrome and Fragile X syndrome
This study tests how people with Down syndrome or Fragile X syndrome process trust in social interactions to see how trust decisions differ in these groups.
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Cognitive Behavioral Therapy for Adolescents with Fragile X Syndrome and Autism Spectrum Disorder
This study is testing whether cognitive behavioral therapy can help teenagers with Fragile X Syndrome and Autism Spectrum Disorder improve their daily skills and overall quality of life.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.