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RECRUITINGOBSERVATIONAL

Baker Gordon Syndrome Natural History Study

A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: - 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. Who Should NOT Join This Trial: • 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 Who May Qualify: - \>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 Who Should NOT Join This Trial: • Less than 18 years old. Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
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.

Treatments Being Tested

DIAGNOSTIC_TEST

Brain Magnetic Resonance Imaging (MRI)

Participants will undergo a 5-10 minute non-anesthesia brain MRI in order to evaluate for changes in brain structure. A 20 to 30 minutes 20 channel surface electroencephalography will be performed in the wake and sleep states.

GENETIC

Whole Genome Sequencing

15 milliliters of blood will be collected at the initial visit. Blood samples will be centrifuged, and plasma stored in the University of Missouri Next Gen Precision Health building. Next generation whole genome sequencing and proteomics will be performed on plasma samples. Additional blood will be collected for the DNA biobank.

OTHER

Induced Pluripotential Stem Cells

A 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells.

Locations (1)

University of Missouri Columbia
Columbia, Missouri, United States