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Baker Gordon Syndrome Natural History Study

Recruitingn/aAges 0 Years - 99 YearsAllUniversity of Missouri-Columbia
NCT06399952 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder also known as Baker Gordon Syndrome (BAGOS). This will be performed by acquiring baseline measurements and developing effective outcome measures and diagnostic tools for the disorder, to prepare the healthcare system for future clinical trials.

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📋 Eligibility rules (as published)
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.
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What it tests

  • Brain Magnetic Resonance Imaging (MRI)
  • Whole Genome Sequencing
  • Induced Pluripotential Stem Cells
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Where

1 site
University of Missouri Columbia
Columbia, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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