Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders

What this Trial Is About

Rare genetic neurodevelopmental disorders such as Syt-1 Disorder and Baker Gordon Syndrome (BAGOS) result from gene mutations crucial for brain development and function. These disorders cause a wide range of symptoms including developmental delays, seizures, motor and behavioral challenges, with varying severity. Because these conditions are complex and rare, they are not well understood, and there are limited treatment options. This research aims to map how these disorders progress, improve diagnosis, and support future therapy development by identifying reliable biomarkers. This observational study does not involve any treatment intervention. It will securely collect and analyze data on disease impact, develop patient-derived model systems such as fibroblasts and induced pluripotent stem cells, and build resources to support future clinical trials. Participants include individuals with diagnosed or suspected rare neurogenetic disorders, as well as control parents or caregivers without neurological disorders. Data collection will span three years, focusing on genetic, imaging, and physiological biomarkers and patient profiles. Participants will be involved in regular visits with the study team to gather detailed information on symptom progression, cognitive, motor, behavioral, and neurological features, and biological samples for laboratory studies. The researchers will assess disease onset patterns, symptom evolution, and severity over time. Safety is monitored through exclusion of individuals with conditions affecting wound healing or anticoagulation use when skin biopsies are performed. The study duration and follow-up are designed to deepen understanding and support future treatment strategies.

Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)