Natural history assessment of Baker Gordon Syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.