Recruiting

Observational Study

Sponsor:

University of Missouri-Columbia

Code:

NCT07329257

Conditions

Baker Gordon Syndrome

Rare Neurodevelopmental Conditions

Rare Neurogenetic Conditions

Syt-1 Disorder

Epilepsy

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Interventions

No Intervention: Observational Cohort

Study Details

Brief summary:

Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity. These conditions present with a wide range of symptoms including developmental delays, seizures, motor and behavioral challenges, and vary widely in severity. These disorders are complex, and they remain poorly understood and lack effective treatments.

Natural history and clinical genetic studies are crucial for mapping how these disorders progress, improving diagnostic accuracy, and guiding therapy development. A major focus is identifying reliable biomarkers (genetic, imaging, and physiological) to track disease severity and support clinical trials. This study will securely collect and analyze data to better understand disease impact, develop patient-derived model systems, and build resources to support future treatments.

Conditions

Baker Gordon Syndrome

Rare Neurodevelopmental Conditions

Rare Neurogenetic Conditions

Syt-1 Disorder

Epilepsy

Study ID

NCT07329257

Start date

Dec 4, 2025

Status verified date

Dec, 2025

Completion date

Dec, 2028

Anticipated

Primary completion date

Dec, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

For those with a rare condition:

Inclusion Criteria:

  • Diagnosed or suspected neurogenetic disorder
  • Individuals 0-99

Exclusion Criteria:

  • Individuals unwilling or unable to complete visits with the study team.

For control parents/caregivers of those with a rare condition:

Inclusion Criteria:

  • No history of a neurological disorder.
  • >18 years.
  • Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder.

Exclusion Criteria:

  • Individuals unwilling or unable to complete the visit with the study team.
  • Individuals who have a history of neurological disorders.
  • < 18 years old

For all individuals who participate in the skin biopsy:

  • Individuals with disease that is known to be associated with poor wound healing.
  • Individuals with a history of allergic reaction to lidocaine.
  • Medical History of cellulitis, diabetes mellitus, poor extremity circulation, deep vein thrombosis, or a history of non-traumatic amputation.
  • Currently taking anticoagulation or have taken with last 6 months

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Interventions

No Intervention: Observational Cohort

There is no intervention for this Natural History Study

Primary outcome measure

  • Disease onset patterns, symptom evolution, and progression severity in rare neurodevelopmental disorders [ Time Frame: 3 years ]
  • Identify and validate biomarkers (genetic, imaging, and physiological) that correlate with disease severity and progression [ Time Frame: 3 years ]
  • Establish patient-derived and control cell lines (e.g., fibroblasts, induced pluripotent stem cells) to generate model systems for mechanistic studies and pre-clinical evaluation of potential therapies [ Time Frame: 3 years ]

Central Contacts and Locations

Central contacts

Sophia R Marchetti

573-882-6720sophiamarchetti@health.missouri.edu

Locations

University of Missouri - Columbia

Recruiting

Columbia, Missouri, United States, 65201

Contacts

Sophia R Marchetti

573-882-6720sophiamarchetti@health.missouri.edu

W. David Arnold

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

Principal Investigator:

W. David Arnold

More Information

Sponsor

University of Missouri-Columbia

Last update posted

Jan 9, 2026

Last verified

Dec, 2025

Keywords

  • Baker Gordon Syndrome
  • BAGOS
  • Rare Conditions
  • Rare
  • Neurogenetic
  • Neurodevelopmental
  • Ultra-rare
  • Genetic mutation
  • Autism

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-29. This information was provided to ClinicalTrials.gov by University of Missouri-Columbia on 2026-01-09. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.