Natural history assessment of Baker Gordon Syndrome
A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
This study is trying to learn more about how Baker Gordon Syndrome affects people over time by tracking their symptoms and collecting important health information to help with future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 0 Years to 99 Years |
| Sex | All |
| Sponsor | University of Missouri-Columbia Academic / other |
| Locations | 1 site (Columbia, Missouri) |
| Trial ID | NCT06399952 on ClinicalTrials.gov |
What this trial studies
This observational study aims to conduct a longitudinal assessment of the clinical progression of individuals with Baker Gordon Syndrome, also known as Synaptotagmin1-Associated Neurodevelopmental Disorder. It will gather baseline measurements and develop outcome measures and diagnostic tools to enhance understanding of the disorder and prepare for future clinical trials. Participants will undergo various assessments, including brain imaging, whole genome sequencing, and the collection of sleep and seizure diaries, while also providing skin samples for stem cell development to study the impact of genetic mutations. The study will focus on identifying factors that correlate with disease development and outcomes.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with a genetically confirmed diagnosis of Baker Gordon Syndrome.
Not a fit: Patients with unrelated neurodevelopmental conditions or co-morbidities may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic and therapeutic strategies for patients with Baker Gordon Syndrome.
How similar studies have performed: While this study focuses on a rare condition, similar natural history studies have shown promise in understanding other neurodevelopmental disorders.
Eligibility criteria
Show full inclusion / exclusion criteria
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 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. Caregivers/LAR Exclusion Criteria: • Less than 18 years old.
Where this trial is running
Columbia, Missouri
- University of Missouri Columbia — Columbia, Missouri, United States (Recruiting)
Study contacts
- Principal investigator: W. David Arnold, MD — University of Missouri-Columbia
- Study coordinator: W. David R Arnold, MD
- Email: wdavidarnold@health.missouri.edu
- Phone: 573-884-2924
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.