Baker Gordon Syndrome Natural History Study (BAGOS)

University of Missouri (MU)

Status: Enrolling

Conditions: Epilepsy, Generalized; Development Delay; Autism or Autistic Traits; Sleep Disorder; SYT-SSX Fusion Protein Expression; Rare Diseases; Motor Delay

Treatments: Other: Induced Pluripotential Stem Cells; Diagnostic Test: Brain Magnetic Resonance Imaging (MRI); Genetic: Whole Genome Sequencing

Study type: Observational

Funder types: Other

Identifiers

NCT06399952

2080722

SYT1 (Registry Identifier)

Details and patient eligibility

About

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.

Full description

The current natural history study is being conducted in anticipation of future treatments for patients with confirmed BAGOS. The study is an important avenue of investigation that will increase the understanding of the disorder and lead to important diagnostic and therapeutic advances. Its purpose is to identify demographic, genetic, environmental, and treatment modalities and concomitant medications that correlate with the disease's development and outcomes. This study will use standard scales and questionnaires for the assessment of global development, language, memory, and motor function, and by collecting sleep and seizure diaries. A small blood sample will be collected for whole genome sequencing and proteomic analysis. Brain imaging (MRI) and electroencephalography (EEG) recordings will be collected to identify disease biomarkers. The investigators will also be asking participants to provide a small skin sample for the development of patient specific stem cells which will be used to further understand the impact of Synaptotagmin1 mutations on neurodevelopment and as a potential screen for future therapies.

Enrollment: 50 estimated patients

Sex: All

Ages: Under 99 years old

Volunteers: No Healthy Volunteers

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.