Baker Gordon Syndrome Natural History Study

NCT06399952 | Recruiting

• 2 other identifiers: 2080722SYT1
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Baker Gordon Syndrome; BAGOS; Synaptotagmin 1-Associated Neurodevelopmental Disorder

Outcome Measures

Primary Outcomes (5)

• Collection of relevant medical data (retrospective and prospective)

  Collection of demographic data, BAGOS-related medical history, past medical and surgical history, current medication, history of immunizations and family medical history.

  24 months

• Neurological Assessment Scale

  Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.

  24 months

• Clinical Global Impressions Scale - Practitioner

  Scales whereby practitioner rates from 1 to 7 the overall improvement/deterioration of the participant affected by BAGOS. One is improved and 7 denotes deterioration.

  24 months

• Pediatric Evaluation of Disability Inventory

  Pediatric Evaluation of Disability Inventory assesses key functional capabilities and performance in children ages 6 months to 7 years.

  24 months

• Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT)

  The PEDI-CAT is a computer adaptive caregiver report which measures Daily Activities, Mobility, Social/Cognitive, and Responsibility. It's designed for use with children and youth with a variety of physical and/or behavioral conditions.

  24 months

Secondary Outcomes (12)

• Gross motor milestones

  24 months

• Global development assessment scale

  24 months

• Vineland Adaptive Behavior Scales Third Edition

  24 months

• Aberrant behavior assessment (ABC)

  24 months

• Behavior Assessment System for Children (BASC), 3rd Edition

  24 months

Other Outcomes (6)

• Health economics

  24 months

• Clinical trial readiness

  24 months

• Clinical trial readiness

  24 months

Interventions

Brain Magnetic Resonance Imaging (MRI) DIAGNOSTIC_TEST

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.

Also known as: Electroencephalography (EEG)

Whole Genome Sequencing GENETIC

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.

Also known as: Next Generation Sequencing

Induced Pluripotential Stem Cells OTHER

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

Also known as: iPSP

Eligibility Criteria

• Age: 0 Years - 99 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Study Population: * Genetically confirmed BAGOS * 0-99 years This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, and by collecting sleep and seizure diaries. In addition, genetic and proteomic analysis, EEG recordings and brain MRI will be collected to identify biomarkers that will indicate disease progression or improvements following treatment.

You may qualify if:

• Genetically confirmed diagnosis of Baker Gordon syndrome.
• years
• Ability to send medical records and diagnostic test results.
• Ability to complete tests and questionnaires.

You may not qualify if:

• 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.
• \>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.
• Less than 18 years old.

Sponsors & Collaborators

• University of Missouri-Columbia: lead

Study Sites (1)

University of Missouri Columbia

Columbia, Missouri, 65201, United States

RECRUITING

Related Publications (1)

• 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.

  PMID: 36291375 BACKGROUND

Related Links

• Baker Gordon Syndrome Foundation
• University of Missouri NextGen Precision Health
• Thompson Center for Autism and Neurodevelopment

Biospecimen

Retention: SAMPLES WITH DNA

Blood for whole and long genome sequencing Skin fibroblasts for induced pluripotential stem cells

MeSH Terms

Conditions

Rare Diseases; Autistic Disorder; Learning Disabilities; Sleep Wake Disorders; Epilepsy, Generalized; Psychomotor Disorders

Interventions

Electroencephalography; Whole Genome Sequencing; High-Throughput Nucleotide Sequencing; Inhibitory Postsynaptic Potentials

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Autism Spectrum Disorder; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Epilepsy; Brain Diseases; Central Nervous System Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques, Neurological; Diagnostic Techniques and Procedures; Diagnosis; Electrodiagnosis; Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques; Synaptic Potentials; Membrane Potentials; Cell Physiological Phenomena; Electrophysiological Phenomena; Physiological Phenomena; Neural Inhibition; Synaptic Transmission; Nervous System Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Study Officials

• W. David Arnold, MD

  University of Missouri-Columbia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

W. David R Arnold, MD

CONTACT

573-884-2924; wdavidarnold@health.missouri.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Executive Director, UM System NextGen Precision Health Initiative Professor, Physical Medicine and Rehabilitation

Study Record Dates

• First Submitted: May 1, 2024
• First Posted: May 6, 2024
• Study Start: April 30, 2024
• Primary Completion: May 5, 2026
• Study Completion: May 5, 2026
• Last Updated: August 29, 2025

Record last verified: 2024-09

Locations

US (1)