Using optical imaging to monitor brain function in Fragile X Syndrome

Establishing Novel Functional Biomarkers for Fragile X Syndrome

This study is testing a new way to see how the brain works in people with Fragile X Syndrome by using a special imaging tool while they watch and listen to things.

Quick facts

• Study type: Observational
• Enrollment: 40 (estimated)
• Ages: 2 Years and up
• Sex: Male
• Sponsor: IRCCS Fondazione Stella Maris (other)
• Locations: 1 site (Marina di Pisa-Tirrenia-Calambrone, Toscana)
• Trial ID: NCT06293027 on ClinicalTrials.gov

What this trial studies

This project aims to evaluate the use of functional near-infrared spectroscopy (fNIRS) as a biomarker for assessing brain function in individuals with Fragile X Syndrome (FXS). The observational study will involve both FXS participants and age-matched healthy controls, focusing on the feasibility of fNIRS and collecting data on cerebral oxygen consumption during specific tasks. Participants will undergo a non-invasive imaging session where fNIRS will measure brain activity while they engage in passive viewing and listening tasks. The study seeks to establish reliable methods for monitoring brain function, which is crucial for future therapeutic research in FXS.

Who should consider this trial

Good fit: Ideal candidates include males aged 2 to 50 years with a confirmed diagnosis of Fragile X Syndrome.

Not a fit: Patients who are uncooperative or have behaviors that prevent the use of fNIRS equipment may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide a reliable method for monitoring brain function in Fragile X Syndrome, aiding in the development of effective treatments.

How similar studies have performed: While the use of fNIRS in this context is relatively novel, similar studies have shown promise in using non-invasive imaging techniques to assess brain function.

Eligibility criteria

Inclusion Criteria:

FXS participants:

* Age criteria: Between ages 2 years to 50 years old, inclusive at time of enrollment
* Diagnosed with FXS with a previously identified pathogenic or likely pathogenic variant in the FMR1 gene.
* Must also meet the diagnostic criteria for FXS.
* Male

Typically developing participants:

* Age criteria: Between ages 2 years to 50 years old, inclusive at time of enrollment
* Age- and sex-matched to the FXS participants
* No underlying genetic diagnosis or past/chronic medical condition associated with increased risk for autism spectrum disorder (ASD) and/or ID
* Typical neurodevelopment for age (no established diagnosis or clinical suspicion for ASD or ID)

Exclusion Criteria:

For FXS and Typically developing participants:

* Unwilling or unable to comply with study procedures and assessments
* Contraindications to fNIRS, such as uncooperative or destructive behaviors preventing lead placement or capture by fNIRS equipment
* Traumatic loss of consciousness in the last year
* Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment
* If participant is judged by the PI or Sub-I to be inappropriate for the study for any reason

For Typically developing participants:

* Known or suspected cognitive impairment
* Known history of MRI abnormality
* Current use of psychotropic medications

Where this trial is running

Marina di Pisa-Tirrenia-Calambrone, Toscana

• IRCCS Fondazione Stella Maris — Marina di Pisa-Tirrenia-Calambrone, Toscana, Italy (RECRUITING)

Study contacts

• Study coordinator: Roberta Battini, MD

Conditions: Fragile X Syndrome