Baker Gordon Syndrome Natural History Study

Launched by UNIVERSITY OF MISSOURI-COLUMBIA · May 1, 2024

Keywords

ClinConnect Summary

The Baker Gordon Syndrome Natural History Study is looking to understand how Baker Gordon Syndrome (also known as Synaptotagmin1-Associated Neurodevelopmental Disorder) affects individuals over time. This study aims to collect important information about the condition in both children and adults, which will help develop better ways to diagnose and measure outcomes for those with the syndrome. This research is crucial for preparing the healthcare system for future clinical trials that may lead to new treatments.

To participate, individuals must have a confirmed diagnosis of Baker Gordon Syndrome and be between the ages of 0 and 99. Participants will need to share their medical records and complete various tests and questionnaires. Caregivers or legal representatives of participants will also be included in the study, provided they are over 18 years old and can understand the study's requirements. Throughout the study, participants and their caregivers can expect to contribute valuable information that may improve care and support for others with this condition in the future.

Gender

ALL

Eligibility 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.