NCT06399952

Baker Gordon Syndrome Natural History Study

A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 50 (estimated)
• Sponsor: University of Missouri-Columbia · Academic / Other
• Sex: All
• Age: 0 Years – 99 Years
• Healthy volunteers: —

Summary

The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder also known as Baker Gordon Syndrome (BAGOS). This will be performed by acquiring baseline measurements and developing effective outcome measures and diagnostic tools for the disorder, to prepare the healthcare system for future clinical trials.

Detailed description

The current natural history study is being conducted in anticipation of future treatments for patients with confirmed BAGOS. The study is an important avenue of investigation that will increase the understanding of the disorder and lead to important diagnostic and therapeutic advances. Its purpose is to identify demographic, genetic, environmental, and treatment modalities and concomitant medications that correlate with the disease's development and outcomes. This study will use standard scales and questionnaires for the assessment of global development, language, memory, and motor function, and by collecting sleep and seizure diaries. A small blood sample will be collected for whole genome sequencing and proteomic analysis. Brain imaging (MRI) and electroencephalography (EEG) recordings will be collected to identify disease biomarkers. The investigators will also be asking participants to provide a small skin sample for the development of patient specific stem cells which will be used to further understand the impact of Synaptotagmin1 mutations on neurodevelopment and as a potential screen for future therapies.

Conditions

• Rare Diseases
• Autism or Autistic Traits
• Development Delay
• SYT-SSX Fusion Protein Expression
• Sleep Disorder
• Epilepsy, Generalized
• Motor Delay

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Brain Magnetic Resonance Imaging (MRI)	Participants will undergo a 5-10 minute non-anesthesia brain MRI in order to evaluate for changes in brain structure. A 20 to 30 minutes 20 channel surface electroencephalography will be performed in the wake and sleep states.
GENETIC	Whole Genome Sequencing	15 milliliters of blood will be collected at the initial visit. Blood samples will be centrifuged, and plasma stored in the University of Missouri Next Gen Precision Health building. Next generation whole genome sequencing and proteomics will be performed on plasma samples. Additional blood will be collected for the DNA biobank.
OTHER	Induced Pluripotential Stem Cells	A 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells.

Timeline

• Start date: 2024-04-30
• Primary completion: 2026-05-05
• Completion: 2026-05-05
• First posted: 2024-05-06
• Last updated: 2025-08-29

Locations

1 site across 1 country: United States