Baker Gordon Syndrome Natural History Study

NCT ID: NCT06399952

Last Updated: 2025-08-29

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 50 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-04-30
• Study Completion Date: 2026-05-05

Brief Summary

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.

Detailed 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.

Conditions

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

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Interventions

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.

Intervention Type: DIAGNOSTIC_TEST

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.

Intervention Type: GENETIC

Induced Pluripotential Stem Cells

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

Intervention Type: OTHER

Other Intervention Names

Electroencephalography (EEG); Next Generation Sequencing; iPSP

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.

• >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.

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.

• Less than 18 years old.

• Minimum Eligible Age: 0 Years
• Maximum Eligible Age: 99 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University of Missouri-Columbia

OTHER

Sponsor Role: lead

Responsible Party

W. David Arnold

Executive Director, UM System NextGen Precision Health Initiative Professor, Physical Medicine and Rehabilitation

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

W. David Arnold, MD

Role: PRINCIPAL_INVESTIGATOR

University of Missouri-Columbia

Locations

University of Missouri Columbia

Columbia, Missouri, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

W. David R Arnold, MD

Role: CONTACT

wdavidarnold@health.missouri.edu

573-884-2924

Facility Contacts

W. David Arnold, MD

Role: primary

wdavidarnold@health.missouri.edu

573-884-2924

References

Riggs E, Shakkour Z, Anderson CL, Carney PR. SYT1-Associated Neurodevelopmental Disorder: A Narrative Review. Children (Basel). 2022 Sep 22;9(10):1439. doi: 10.3390/children9101439.

Reference Type: BACKGROUND

PMID: 36291375 (View on PubMed)

Related Links

http://www.bagosfoundation.org

Baker Gordon Syndrome Foundation

https://precisionhealth.missouri.edu

University of Missouri NextGen Precision Health

https://precisionhealth.missouri.edu

Thompson Center for Autism and Neurodevelopment

Other Identifiers

SYT1

Identifier Type: REGISTRY

Identifier Source: secondary_id

2080722

Identifier Type: -

Identifier Source: org_study_id