Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity. These conditions present with a wide range of symptoms including developmental delays, seizures, motor and behavioral challenges, and vary widely in severity. These disorders are complex, and they remain poorly understood and lack effective treatments.
Natural history and clinical genetic studies are crucial for mapping how these disorders progress, improving diagnostic accuracy, and guiding therapy development. A major focus is identifying reliable biomarkers (genetic, imaging, and physiological) to track disease severity and support clinical trials. This study will securely collect and analyze data to better understand disease impact, develop patient-derived model systems, and build resources to support future treatments.
Diagnosed or suspected neurogenetic disorder
Individuals 0-99
Individuals unwilling or unable to complete visits with the study team.
No history of a neurological disorder.
>18 years.
Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder.
Individuals with a diagnosed or suspected rare genetic neurodevelopmental disorder. Parents and caregivers over 18 years of age can participate in the study as healthy controls.
Other
Prospective
No Intervention: Observational Cohort
Other interventionThere is no intervention for this Natural History Study
Disease onset patterns, symptom evolution, and progression severity in rare neurodevelopmental disorders
Identify and validate biomarkers (genetic, imaging, and physiological) that correlate with disease severity and progression
Establish patient-derived and control cell lines (e.g., fibroblasts, induced pluripotent stem cells) to generate model systems for mechanistic studies and pre-clinical evaluation of potential therapies
Develop a deep phenotypic profile (cognitive, motor, behavioral, and neurological)
Functional Mobility Scale, Aberrant Behavior Checklist, Conners Global Index, Pediatric Sleep Questionnaire, Medical Questionnaires, Ex.
Distribution of clinical presentation features, including age at onset, core symptoms, severity scores, and disease progression measures, within and across genetic subtypes
Build a repository to support future interventional clinical trials
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