A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
University of Missouri-Columbia
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.
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, a…
Eligibility
- Age range
- 0–99 years
- Sex
- All
- Healthy volunteers
- Not specified
Inclusion Criteria: * Genetically confirmed diagnosis of Baker Gordon syndrome. * 0-99 years * Ability to send medical records and diagnostic test results. * Ability to complete tests and questionnaires. Exclusion Criteria: • The presence of another condition or co-morbidity unrelated to Baker Gordon syndrome, that affects neurodevelopment. In this study, the primary caregivers/LAR for each participant diagnosed Baker Gordon Syndrome will be also considered participants. Caregivers/LAR will have to meet the following inclusion criteria: * \>18 years. * Legal caregiver of the patient diag…
Interventions
- Diagnostic TestBrain 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.
- GeneticWhole 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.
- OtherInduced Pluripotential Stem Cells
A 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells.
Location
- University of Missouri ColumbiaColumbia, Missouri