Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome
Status: Recruiting

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:
- EligibilityCriteria: 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 - HealthyVolunteers: Accepts Healthy Volunteers - Gender: Male - MinimumAge: 2 Years - StdAgeList: Child, Adult, Older Adult - StudyPopulation: Fragile X syndrome (FXS) is the most commonly inherited form of mental retardation and developmental disabilities, affecting 1 in 4000 individuals. The phenotype of FXS involves mental retardation or learning disabilities, social deficit, anxiety, attention deficit, impulsivity, hyperarousal, mood instability, inflexibility, prominent ears, long face, and hyperextensible finger joints. There is no effective treatment for FXS, and the standard of care include therapies that help minimise the symptoms of the condition. - SamplingMethod: Non-Probability Sample