Clinical trial NCT06399952: Baker Gordon Syndrome Natural History Study
Official title: A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Rare Diseases
Autism or Autistic Traits
Development Delay
SYT-SSX Fusion Protein Expression
Sleep Disorder
Epilepsy, Generalized
Motor Delay
Keywords: Baker Gordon Syndrome
BAGOS
Synaptotagmin 1-Associated Neurodevelopmental Disorder
Lead sponsor: University of Missouri-Columbia
Sponsor class: OTHER
First posted: 2024-05-06
Enrollment: 50
Sex: ALL
Minimum age (years): 0
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Study Population:

* Genetically confirmed BAGOS
* 0-99 years

This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, and by collecting sleep and seizure diaries. In addition, genetic and proteomic analysis, EEG recordings and brain MRI will be collected to identify biomarkers that will indicate disease progression or improvements following treatment.

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.

Detailed description: The current natural history study is being conducted in anticipation of future treatments for patients with confirmed BAGOS. The study is an important avenue of investigation that will increase the understanding of the disorder and lead to important diagnostic and therapeutic advances. Its purpose is to identify demographic, genetic, environmental, and treatment modalities and concomitant medications that correlate with the disease's development and outcomes. This study will use standard scales and questionnaires for the assessment of global development, language, memory, and motor function, and by collecting sleep and seizure diaries. A small blood sample will be collected for whole genome sequencing and proteomic analysis. Brain imaging (MRI) and electroencephalography (EEG) recordings will be collected to identify disease biomarkers. The investigators will also be asking participants to provide a small skin sample for the development of patient specific stem cells which will be used to further understand the impact of Synaptotagmin1 mutations on neurodevelopment and as a potential screen for future therapies.

Eligibility criteria: 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.

Primary outcomes:
measure: Collection of relevant medical data (retrospective and prospective)
timeFrame: 24 months
measure: Neurological Assessment Scale
timeFrame: 24 months
measure: Clinical Global Impressions Scale - Practitioner
timeFrame: 24 months
measure: Pediatric Evaluation of Disability Inventory
timeFrame: 24 months
measure: Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT)
timeFrame: 24 months
Secondary outcomes:
measure: Gross motor milestones
timeFrame: 24 months
measure: Global development assessment scale
timeFrame: 24 months
measure: Vineland Adaptive Behavior Scales Third Edition
timeFrame: 24 months
measure: Aberrant behavior assessment (ABC)
timeFrame: 24 months
measure: Behavior Assessment System for Children (BASC), 3rd Edition
timeFrame: 24 months
measure: Conners 4th Edition
timeFrame: 24 months
measure: Motor function assessment
timeFrame: 24 months
measure: Pediatric Sleep Questionnaire (PSQ)
timeFrame: 24 months
measure: Test of Everyday Attention for Children 2nd Edition (TEA-Ch2)
timeFrame: 24 months
measure: NEPSY 2nd edition
timeFrame: 24 months
measure: The Infant/Toddler Sensory Profile
timeFrame: 24 months
measure: Mullen Scales of Early Learning
timeFrame: 24 months
Other outcomes:
measure: Health economics
timeFrame: 24 months
measure: Clinical trial readiness
timeFrame: 24 months
measure: Clinical trial readiness
timeFrame: 24 months
measure: Laboratory tests
timeFrame: 24 months
measure: Electroencephalogram activity recordings (EEG)
timeFrame: 24 months
measure: Brain magnetic resonance imaging (MRI)
timeFrame: 24 months
Locations:
city: Columbia
country: United States
facility: University of Missouri Columbia
state: Missouri
Study officials:
affiliation: University of Missouri-Columbia
name: Paul R Carney, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Riggs E, Shakkour Z, Anderson CL, Carney PR. SYT1-Associated Neurodevelopmental Disorder: A Narrative Review. Children (Basel). 2022 Sep 22;9(10):1439. doi: 10.3390/children9101439.