Establishing Novel Functional Biomarkers for Fragile X Syndrome
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.
⁃ 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)