Baker Gordon Syndrome Natural History Study

Part of paid clinical trials in Columbia, Missouri.

Sponsor
University of Missouri-Columbia
Study ID
NCT06399952
Status
Recruiting
Apply to this trial

Conditions

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

Eligibility Criteria

Sex
ALL
Age
0 Years - 99 Years
Healthy Volunteers
Not accepted

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.
  • 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.
  • Induced Pluripotential Stem Cells — OTHER
    A 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells.

Study Details

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.

Key Dates

Start date
Apr 30, 2024
Status verified
Jun 2026
Primary completion
May 5, 2027
Completion
May 5, 2027

Study Design

Enrollment
50 participants (estimated)

Primary Outcome Measure

Collection of relevant medical data (retrospective and prospective) [ Time Frame: 24 months ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of Missouri ColumbiaColumbiaMissouri65201
W. David Arnold, MD
[email protected]
573-884-2924

Find similar trials in Columbia, MO

By research site
University of Missouri Columbia· Columbia, MO

Related Studies