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
University of Missouri-Columbia
50 participants
Apr 30, 2024
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria9
- Genetically confirmed diagnosis of Baker Gordon syndrome.
- years
- Ability to send medical records and diagnostic test results.
- Ability to complete tests and questionnaires.
- \>18 years.
- Legal caregiver of the patient diagnosed with a Baker Gordon Syndrome.
- Willingness to follow study procedures, as assessed by the research team.
- Willingness to sign the consent form.
- Ability to understand all the information regarding the study, as assessed by the research team.
Exclusion Criteria3
- • 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.
- • Less than 18 years old.
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Interventions
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.
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.
A 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06399952