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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT06399952
Other study ID # 2080722
Secondary ID SYT1
Status Recruiting
Phase
First received
Last updated
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
Health authority
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
Accepts healthy volunteers
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.

Study Design


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
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