Baker Gordon Syndrome Natural History Study

RecruitingOBSERVATIONAL
Enrollment

50

Participants

Timeline

Start Date

April 30, 2024

Primary Completion Date

May 5, 2026

Study Completion Date

May 5, 2026

Conditions
Rare DiseasesAutism or Autistic TraitsDevelopment DelaySYT-SSX Fusion Protein ExpressionSleep DisorderEpilepsy, GeneralizedMotor 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.

Trial Locations (1)

65201

RECRUITING

University of Missouri Columbia, Columbia

All Listed Sponsors
lead

University of Missouri-Columbia

OTHER