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Baker Gordon Syndrome Natural History Study

NCT06399952 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2025-08-29

No results posted yet for this study

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

Interventions

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.

Sponsors & Collaborators

  • University of Missouri-Columbia

    lead OTHER

Principal Investigators

  • W. David Arnold, MD · University of Missouri-Columbia

Eligibility

Min Age
0 Years
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-04-30
Primary Completion
2026-05-05
Completion
2026-05-05

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06399952 on ClinicalTrials.gov