Baker Gordon Syndrome Natural History Study
- Conditions
- Rare DiseasesDevelopment DelaySYT-SSX Fusion Protein ExpressionAutism or Autistic TraitsSleep DisorderMotor DelayEpilepsy, Generalized
- Registration Number
- NCT06399952
- Lead Sponsor
- University of Missouri-Columbia
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 25
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.
- 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
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Collection of relevant medical data (retrospective and prospective) 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 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 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 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) 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 Outcome Measures
Name Time Method Gross motor milestones 24 months World Health Organization (WHO) Motor Milestones. Scale of 6 gross motor milestones. Lower scores denote worse motor function.
Global development assessment scale 24 months 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.
Vineland Adaptive Behavior Scales Third Edition 24 months 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
Aberrant behavior assessment (ABC) 24 months 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.
Behavior Assessment System for Children (BASC), 3rd Edition 24 months Behavior Assessment System for Children (BASC), 3rd Edition. A comprehensive set of rating scales and forms, BASC-3 helps participants understand the behaviors and emotions of children and adolescents
Conners 4th Edition 24 months 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.
Motor function assessment 24 months 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. Higher scored denote less impairment.
Pediatric Sleep Questionnaire (PSQ) 24 months A 22-point questionnaire that assesses the sleep patterns and potential abnormalities in children and their affected quality of life.
Test of Everyday Attention for Children 2nd Edition (TEA-Ch2) 24 months Test of Everyday Attention for Children Second Edition (TEA-Ch2) uniquely measures separable aspects of attention.
NEPSY 2nd edition 24 months NEPSY®-II results provide information relating to typical childhood disorders, enabling accurate diagnosis and intervention planning for success in school and at home.
The Infant/Toddler Sensory Profile 24 months 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.
Mullen Scales of Early Learning 24 months 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.
Trial Locations
- Locations (1)
University of Missouri Columbia
🇺🇸Columbia, Missouri, United States