SYT1-Associated Neurodevelopmental Disorder: A Narrative Review.
Edith Riggs, Zaynab Shakkour, Christopher L Anderson...
https://pubmed.ncbi.nlm.nih.gov/36291375Actively Recruiting
Age: 0Years - 99Years
All Genders
ID06399952
A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
Led by University of Missouri-Columbia · Updated on 2026-06-03
50
Participants Needed
1
Research Sites
N/A
Total Duration
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AI-Summary
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 disorder's 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.
CONDITIONS
Brief Title
Baker Gordon Syndrome Natural History Study
Who Can Participate
Age: 0Years - 99Years
All Genders
Eligibility Criteria
You may qualify if you...
- Genetically confirmed diagnosis of Baker Gordon syndrome
- Age between 0 and 99 years
- Ability to send medical records and diagnostic test results
- Ability to complete tests and questionnaires
- Legal caregivers or legally authorized representatives must be 18 years or older
- Willingness to follow study procedures and sign consent form
- Ability to understand study information as assessed by the research team
You will not qualify if you...
- Presence of another condition unrelated to Baker Gordon syndrome that affects neurodevelopment
- Caregivers or legally authorized representatives younger than 18 years old
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Initial visit
Participants undergo brain MRI, EEG recordings, blood collection for whole genome sequencing and proteomic analysis, and a skin punch biopsy to collect samples for research and biomarker identification.
1 visit (in-person)
Long-term Monitoring
Duration - 24 months
Participants are assessed over time using standard scales and questionnaires related to development, behavior, motor function, and sleep, while medical data is collected retrospectively and prospectively to understand the natural history of Baker Gordon Syndrome.
Multiple visits over 24 months
Trial Site Locations
Total: 1 location
1
University of Missouri Columbia
Columbia, Missouri, United States, 65201
Actively Recruiting
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Research Team
W
W. David R Arnold, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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