Establishing Novel Functional Biomarkers for Fragile X Syndrome

Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY

The objective of this project is to explore the potential of functional near- infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Fragile X Syndrome (FXS) that is still without cure. The limited availability of objective and quantitative biomarkers to monitor brain function poses challenges to advancing therapeutic research. With clinical trials on the horizon, the need for precise measurement to evaluate treatment efficacy is pressing. The investigators seek to address this gap by assessing the prognostic reliability of both resting and task- evoked fNIRS. The primary objectives of this pilot study are: 1. to determine the feasibility of fNIRS in individuals with FXS; 2. to collect pilot data on individuals with FXS to determine the patterns of cerebral oxygen consumption as measured by fNIRS; 3. to compare cerebral oxygen consumption changes at rest and from visual/auditory tasks in affected individuals versus age-appropriate healthy volunteers. The secondary objectives of this study are: 1. to correlate cerebral oxygen consumption changes from visual/auditory task in affected individuals to other measures of disease state (e.g., neuropsychological assessment, disease- specific severity rating scales); 2. to examine test-retest reliability of our fNIRS measures in both affected individuals and healthy controls.

Eligibility
Participation Requirements
Sex: Male
Minimum Age: 2
Healthy Volunteers: t
View:

⁃ 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)

Locations
Other Locations
Italy
IRCCS Fondazione Stella Maris
RECRUITING
Tirrenia
Contact Information
Primary
Roberta Battini, MD
roberta.battini@fsm.unipi.it
+39 050886282
Backup
Laura Baroncelli, PhD
laura.baroncelli@fsm.unipi.it
+39 050886233
Time Frame
Start Date: 2023-06-01
Estimated Completion Date: 2025-12-15
Participants
Target number of participants: 40
Treatments
FXS affected individuals
Individuals with genetic diagnosis of FXS.
Neurotypical controls
Healthy volunteers without known health or medical issues.
Related Therapeutic Areas
Sponsors
Leads: IRCCS Fondazione Stella Maris

This content was sourced from clinicaltrials.gov