Non-Invasive Optical Imaging to Monitor Brain Function in Fragile X Syndrome and Creatine Transporter Deficiency

What this Trial Is About

Researchers are studying Fragile X syndrome FXS and Creatine Transporter Deficiency CTD, two common X-linked causes of intellectual disability that affect mostly males and vary in severity in females. These neurodevelopmental disorders share symptoms such as intellectual disability, autistic-like behaviors, mood changes, and seizures, with brain structure mostly normal but functional brain connectivity and energy metabolism affected. The study aims to find non-invasive, objective brain biomarkers using optical imaging to improve diagnosis and treatment monitoring for these disorders. The study uses functional near-infrared spectroscopy fNIRS, a safe and portable imaging technique that measures brain blood flow and oxygen use as an indirect sign of brain activity. Participants include males and females with confirmed genetic mutations causing FXS or CTD, as well as matched healthy controls. Assessments occur at one inclusion visit and include clinical exams, parental questionnaires, cognitive and reasoning tests, and an fNIRS imaging session to measure visually-evoked brain responses. Participants will undergo a single study visit involving medical and developmental history reviews, epilepsy and autism symptom assessments, cognitive and language testing, and reasoning tasks on tablets. The main outcomes measured are the strength and timing of the visual brain responses detected by fNIRS. Additional data from questionnaires will evaluate behavior, adaptive skills, and executive functions. This non-randomized study allows researchers to explore brain function signatures that may help diagnose and monitor FXS and CTD over time.

Optical Imaging in X-linked Disorders.