Observational Natural History Study of Baker Gordon Syndrome Across All Ages Evaluating Genetic, Developmental, and Clinical Features

What this Trial Is About

Researchers are conducting a prospective, longitudinal natural history study to understand the clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder, also known as Baker Gordon Syndrome BAGOS. The study aims to develop effective outcome measures and diagnostic tools to prepare for future clinical trials, focusing on demographic, genetic, environmental factors, treatments, and medications linked to the disorders development and outcomes. Participants will undergo various assessments including standard scales and questionnaires to evaluate global development, language, memory, and motor functions. They will keep sleep and seizure diaries, provide a small blood sample for whole genome sequencing and proteomic analysis, and have brain imaging via MRI and electroencephalography EEG to identify disease biomarkers. A small skin sample will be collected to develop patient-specific stem cells for further research on the impact of Synaptotagmin1 mutations. During the 24-month study, participants and their caregivers will be assessed using neurological and disability evaluation scales, behavior assessments, and other developmental tests. Researchers will collect medical data, monitor motor milestones, and evaluate sleep and attention. Caregivers and legal representatives will also participate by completing questionnaires and consenting to study procedures. The goal is to enhance understanding of BAGOS and prepare the healthcare system for future treatments.

Baker Gordon Syndrome Natural History Study