A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Rare Diseases
- Sponsor
- University of Missouri-Columbia
- Enrollment
- 25
- Locations
- 1
- Primary Endpoint
- Collection of relevant medical data (retrospective and prospective)
- Status
- Recruiting
- Last Updated
- 8 months ago
Overview
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 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.
Investigators
W. David Arnold
Executive Director, UM System NextGen Precision Health Initiative Professor, Physical Medicine and Rehabilitation
University of Missouri-Columbia
Eligibility Criteria
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.
Outcomes
Primary Outcomes
Collection of relevant medical data (retrospective and prospective)
Time Frame: 24 months
Collection of demographic data, BAGOS-related medical history, past medical and surgical history, current medication, history of immunizations and family medical history.
Neurological Assessment Scale
Time Frame: 24 months
Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.
Clinical Global Impressions Scale - Practitioner
Time Frame: 24 months
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.
Pediatric Evaluation of Disability Inventory
Time Frame: 24 months
Pediatric Evaluation of Disability Inventory assesses key functional capabilities and performance in children ages 6 months to 7 years.
Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT)
Time Frame: 24 months
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.
Secondary Outcomes
- Gross motor milestones(24 months)
- Global development assessment scale(24 months)
- Vineland Adaptive Behavior Scales Third Edition(24 months)
- Aberrant behavior assessment (ABC)(24 months)
- Behavior Assessment System for Children (BASC), 3rd Edition(24 months)
- Conners 4th Edition(24 months)
- Motor function assessment(24 months)
- Pediatric Sleep Questionnaire (PSQ)(24 months)
- Test of Everyday Attention for Children 2nd Edition (TEA-Ch2)(24 months)
- NEPSY 2nd edition(24 months)
- The Infant/Toddler Sensory Profile(24 months)
- Mullen Scales of Early Learning(24 months)