What is this study trying to find out about Baker Gordon Syndrome?

This study aims to understand how Baker Gordon Syndrome progresses over time in children and adults. Researchers want to develop tools and measures to track the disorder and prepare for future treatments. The study is led by the University of Missouri-Columbia to improve diagnosis and care for people with this rare condition.

Who may be eligible for this Baker Gordon Syndrome clinical trial?

Anyone aged 0 to 99 years with a genetic diagnosis of Baker Gordon Syndrome may be eligible. Both patients and their legal caregivers who are 18 years or older can participate. Participants should be able to send medical records and complete tests and questionnaires. Please review eligibility criteria for more details.

Is there any cost to participate in this Baker Gordon Syndrome clinical trial?

Study-related care, including all assessments and procedures, is provided at no cost. However, personal travel and related expenses may vary and are not guaranteed to be covered. Participants should plan accordingly for any additional costs.

Actively Recruiting

Age: 0Years - 99Years

All Genders

ID06399952

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

Led by University of Missouri-Columbia · Updated on 2026-06-03

Participants Needed

Research Sites

N/A

Total Duration

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 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.

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

Research Team

W. David R Arnold, MD

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