Prospective Cohort Study of Neurogenetic Diseases

This study creates a long-term registry of patients with neurogenetic diseases — rare inherited neurological conditions including intellectual disabilities, epileptic encephalopathies, Huntington's disease, and hereditary ataxias — to enable deep clinical characterization and support future research. The registry will collect standardized clinical evaluations and biological samples (blood, urine, and optionally cerebrospinal fluid and skin biopsies) annually over 3 years. Patients aged 6 and older with a molecularly confirmed neurogenetic diagnosis are eligible, while those participating in conflicting clinical trials, pregnant women, or those unwilling to provide samples are excluded. Participation involves annual visits for clinical assessment and sample collection, with the goal of identifying biomarkers and paving the way for future treatment trials. This summary was generated with AI assistance to help patients understand the study in plain language.