Rare Diseases, Autism or Autistic Traits, Development Delay, SYT-SSX Fusion Protein Expression, Sleep Disorder, Epilepsy, Generalized, Motor Delay
Conditions
Keywords
Baker Gordon Syndrome, BAGOS, Synaptotagmin 1-Associated Neurodevelopmental Disorder
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.
Interventions
DIAGNOSTIC_TESTBrain 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.
GENETICWhole 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.
OTHERInduced Pluripotential Stem Cells
A 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells.
Sponsors
University of Missouri-Columbia
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 99 Years
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| 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. |
| 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. |
| 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| 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. |
| 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. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Health economics | 24 months | Interview with Caregivers |
| Brain magnetic resonance imaging (MRI) | 24 months | Brain magnetic imaging (MRI) to measure the brain grey and white matter volume. |
| Electroencephalogram activity recordings (EEG) | 24 months | Electroencephalogram (EEG) to record brain activity of Baker Gordon Syndrome patients over a 2-hour period. |
| Laboratory tests | 24 months | Genomic and proteomic analysis of plasma samples to determine biomarkers of disease progression |
| Clinical trial readiness | 24 months | Demographic data collection |
Countries
United States
Contacts
Primary ContactW. David R Arnold, MD
Outcome results
None listed