Recruiting

Observational Study

Sponsor:

University of Missouri-Columbia

Code:

NCT06399952

Conditions

Rare Diseases

Autism or Autistic Traits

Development Delay

SYT-SSX Fusion Protein Expression

Sleep Disorder

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Interventions

Brain Magnetic Resonance Imaging (MRI)

Whole Genome Sequencing

Induced Pluripotential Stem Cells

Study Details

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

Study ID

NCT06399952

Start date

Apr 30, 2024

Status verified date

Jun, 2026

Completion date

May 5, 2027

Anticipated

Primary completion date

May 5, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

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.

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.

Caregivers/LAR will have to meet the following inclusion criteria:

  • >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.

Caregivers/LAR Exclusion Criteria:

• Less than 18 years old.

Study Design

Enrollment

50 participants

Anticipated

Interventions and Outcome Measures

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.

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.

Induced Pluripotential Stem Cells

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

Primary outcome measure

  • Collection of relevant medical data (retrospective and prospective) [ Time Frame: 24 months ]
  • Neurological Assessment Scale [ Time Frame: 24 months ]
  • Clinical Global Impressions Scale - Practitioner [ Time Frame: 24 months ]
  • Pediatric Evaluation of Disability Inventory [ Time Frame: 24 months ]
  • Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) [ Time Frame: 24 months ]

Central Contacts and Locations

Central contacts

W. David R Arnold, MD

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

Locations

University of Missouri Columbia

Recruiting

Columbia, Missouri, United States, 65201

Contacts

W. David Arnold, MD

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

More Information

Sponsor

University of Missouri-Columbia

Last update posted

Jun 3, 2026

Last verified

Jun, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-03. This information was provided to ClinicalTrials.gov by University of Missouri-Columbia on 2026-06-03. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.