Baker Gordon Syndrome Natural History Study

Sleep Disorder Clinical Trial

— BAGOS  

Official title:

A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06399952
• Other study ID #: 2080722
• Secondary ID: SYT1
• Status: Recruiting
• Start date: April 30, 2024
• Est. completion date: May 5, 2026

Study information

• Verified date: May 2024
• Source: University of Missouri-Columbia
• Contact: Paul R Carney, MD
• Phone: 573-882-5779
• Email: prcarney[@]health.missouri.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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 our 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. We 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 25
• Est. completion date: May 5, 2026
• Est. primary completion date: May 5, 2026
• Gender: All
• Age group: 0 Years to 99 Years

Eligibility

Inclusion Criteria:

For the candidate participants affected by BAGOS:

• Clinical and molecular diagnosis of BAGOS.

• 0-99 years

• Obtained consent forms and/or record of consultation by the caregivers.

In this study, the primary caregivers for each participant diagnosed Baker Gordon Syndrome will be also considered participants. Caregivers 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.

Exclusion Criteria:

• The participant affected by BAGOS may not enter the study if there is any comorbidity (*) that could potentially affect the results of the study. This will be subject to the clinical judgement of the Chief Investigator (CI) and/or the Principal Investigator (PI). Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of pathogenic mutation.

(*) This includes any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures.

Related Conditions & MeSH terms

• Development Delay
• Epilepsy, Generalized
• Motor Delay
• Rare Diseases
• Sleep Disorder
• Sleep Wake Disorders

Intervention

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.

Locations

Country	Name	City	State
United States	University of Missouri Columbia	Columbia	Missouri

Sponsors (1)

Lead Sponsor	Collaborator
University of Missouri-Columbia

Country where clinical trial is conducted

United States, 

References & Publications (1)

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Health economics	Interview with Caregivers	24 months
Other	Clinical trial readiness	Demographic data collection and facilities preparation	24 months
Other	Laboratory tests	Genomic and proteomic analysis of plasma samples to determine biomarkers of disease progression	24 months
Other	Electroencephalogram activity recordings (EEG)	Electroencephalogram (EEG) to record brain activity of Baker Gordon Syndrome patients over a 2-hour period (e.g., sleep architecture, number and frequency of seizures, background epileptic activity, delta-rhythmicity)	24 months
Other	Brain magnetic resonance imaging (MRI)	Brain magnetic imaging (MRI) to measure the brain grey and white matter volume.	24 months
Primary	Collection of relevant medical data (retrospective and prospective)	Collection of demographic data, BAGOS-related medical history, past medical and surgical history, current medication, history of immunizations and family medical history.	24 months
Primary	Neurological Assessment Scale	Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.	24 months
Primary	Clinical Global Impressions Scale - Practitioner	Scales whereby practitioner rates from 1 to 7 the overall improvement/deterioration of the participant affected by BAGOS. One is improved and 7 denotes deterioration.	24 months
Primary	Clinical Global Impressions Scale - Caregiver	Scales whereby the caregiver rates from 1 to 7 the overall improvement/deterioration of the participant affected to by Baker Gordon Syndrome. One is improved and 7 denotes deterioration.	24 months
Primary	Pediatric Evaluation of Disability Inventory	Pediatric Evaluation of Disability Inventory assesses key functional capabilities and performance in children ages 6 months to 7 years. PEDI is also useful for older children whose functional abilities are lower than those of seven-year-olds without disabilities.	24 months
Primary	Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT)	The PEDI-CAT is a computer adaptive caregiver report which measures Daily Activities, Mobility, Social/Cognitive, and Responsibility. It's designed for use with children and youth with a variety of physical and/or behavioral conditions.	24 months
Secondary	Gross motor milestones	World Health Organization (WHO) Motor Milestones. Scale of 6 gross motor milestones. Lower scores denote worse motor function.	24 months
Secondary	Global development assessment scale	Bayley Scales of Infant and Toddler Development - 4 (BSID-4) for Developmental delays. Scale is divided into five domains, which are further divided into subdomains. The first step is to calculate the starting point by beginning with the items that are age appropriate. The starting point is validated if three consecutive items are achieved. If the participant affected by Baker Gordon Syndrome does not achieve three consecutive items in a row at the age-appropriate starting point, the evaluator must go backwards to the lower age-starting point until the participant affected by Baker Gordon Syndrome achieves three items in a row. The assessment stops once five items in a row are not achieved.	24 months
Secondary	Vineland Adaptive Behavior Scales Third Edition	Vineland Adaptive Behavior Scales Third Edition is the leading instrument for supporting the diagnosis of intellectual and developmental disabilities. Vineland-3 not only aids in diagnosis, but provides valuable information for developing educational and treatment plans	24 months
Secondary	Aberrant behavior assessment (ABC)	Aberrant Behavior Checklist-Community (ABC-C). This scale comprises 58 items and is divided into five subdomains. The ABC-C is designed on a four-point scale with the lowest score representing less-affected patients while the highest score represents most-affected patients.	24 months
Secondary	Behavior Assessment System for Children (BASC), 3rd Edition	Behavior Assessment System for Children (BASC), 3rd Edition. A comprehensive set of rating scales and forms, BASC-3 helps you understand the behaviors and emotions of children and adolescents	24 months
Secondary	Conners 4th Edition	Conners 4th Edition (Conners 4™) provides a comprehensive assessment of symptoms and impairments associated with ADHD and common co-occurring problems and disorders in children and youth aged 6 to 18 years.	24 months
Secondary	Motor function assessment	Functional Mobility Scale (FMS). Scale which rates the walking ability in three different walking distances, and these distances will be rated on a 6-point scale.	24 months
Secondary	Sleep and seizure activity	Sleep and seizure diaries with ready-made questionnaires	24 months
Secondary	Test of Everyday Attention for Children 2nd Edition (TEA-Ch2)	Test of Everyday Attention for Children Second Edition (TEA-Ch2) uniquely measures separable aspects of attention.	24 months
Secondary	NEPSY 2nd edition	NEPSY®-II results provide information relating to typical childhood disorders, enabling accurate diagnosis and intervention planning for success in school and at home.	24 months
Secondary	The Infant/Toddler Sensory Profile	The Infant/Toddler Sensory Profile® was developed to evaluate sensory processing patterns in the very young. The results provide understanding of how sensory processing affects the child's daily functioning performance.	24 months
Secondary	Mullen Scales of Early Learning	Mullen Scales of Early Learning is a developmentally integrated system that assesses language, motor, and perceptual abilities, measures cognitive ability and motor development quickly and reliability.	24 months

External Links

•   Baker Gordon Syndrome Foundation
•   Thompson Center for Autism and Neurodevelopment
•   University of Missouri NextGen Precision Health