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| ID | Type | Description | Link |
|---|---|---|---|
| SYT1 | Registry Identifier | Synaptotagmin 1-Associated Neurodevelopmental Disorder |
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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.
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Brain Magnetic Resonance Imaging (MRI) | Diagnostic Test | 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. |
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| Whole Genome Sequencing | Genetic | 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. |
| |
| Induced Pluripotential Stem Cells | Other | A 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells. |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| 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 |
| 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 |
| Pediatric Evaluation of Disability Inventory | Pediatric Evaluation of Disability Inventory assesses key functional capabilities and performance in children ages 6 months to 7 years. | 24 months |
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Gross motor milestones | World Health Organization (WHO) Motor Milestones. Scale of 6 gross motor milestones. Lower scores denote worse motor function. | 24 months |
| Global development assessment scale |
| Measure | Description | Time Frame |
|---|---|---|
| Health economics | Interview with Caregivers | 24 months |
| Clinical trial readiness | Demographic data collection | 24 months |
Inclusion Criteria:
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:
Caregivers/LAR Exclusion Criteria:
• Less than 18 years old.
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Study Population:
This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, and by collecting sleep and seizure diaries. In addition, genetic and proteomic analysis, EEG recordings and brain MRI will be collected to identify biomarkers that will indicate disease progression or improvements following treatment.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| W. David R Arnold, MD | Contact | 573-884-2924 | wdavidarnold@health.missouri.edu |
| Name | Affiliation | Role |
|---|---|---|
| W. David Arnold, MD | University of Missouri-Columbia | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Missouri Columbia | Recruiting | Columbia | Missouri | 65201 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36291375 | Result | 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. |
| Label | URL |
|---|---|
| Baker Gordon Syndrome Foundation | View source |
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Blood for whole and long genome sequencing Skin fibroblasts for induced pluripotential stem cells
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 |
| 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 |
| 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 |
| 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 participants understand the behaviors and emotions of children and adolescents | 24 months |
| 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 |
| 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. Higher scored denote less impairment. | 24 months |
| Pediatric Sleep Questionnaire (PSQ) | A 22-point questionnaire that assesses the sleep patterns and potential abnormalities in children and their affected quality of life. | 24 months |
| 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 |
| 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 |
| 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 |
| 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 |
| Clinical trial readiness | Facilities Preparation | 24 months |
| Laboratory tests | Genomic and proteomic analysis of plasma samples to determine biomarkers of disease progression | 24 months |
| Electroencephalogram activity recordings (EEG) | Electroencephalogram (EEG) to record brain activity of Baker Gordon Syndrome patients over a 2-hour period. | 24 months |
| Brain magnetic resonance imaging (MRI) | Brain magnetic imaging (MRI) to measure the brain grey and white matter volume. | 24 months |
| University of Missouri NextGen Precision Health | View source |
| Thompson Center for Autism and Neurodevelopment | View source |
| ID | Term |
|---|---|
| D035583 | Rare Diseases |
| D001321 | Autistic Disorder |
| D007859 | Learning Disabilities |
| D012893 | Sleep Wake Disorders |
| D004829 | Epilepsy, Generalized |
| D011596 | Psychomotor Disorders |
| ID | Term |
|---|---|
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D000067877 | Autism Spectrum Disorder |
| D002659 | Child Development Disorders, Pervasive |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D003147 | Communication Disorders |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D004827 | Epilepsy |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| ID | Term |
|---|---|
| D004569 | Electroencephalography |
| D000073336 | Whole Genome Sequencing |
| D059014 | High-Throughput Nucleotide Sequencing |
| D053444 | Inhibitory Postsynaptic Potentials |
| ID | Term |
|---|---|
| D003943 | Diagnostic Techniques, Neurological |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D004568 | Electrodiagnosis |
| D017422 | Sequence Analysis, DNA |
| D017421 | Sequence Analysis |
| D005821 | Genetic Techniques |
| D008919 | Investigative Techniques |
| D055366 | Synaptic Potentials |
| D008564 | Membrane Potentials |
| D002468 | Cell Physiological Phenomena |
| D055724 | Electrophysiological Phenomena |
| D010829 | Physiological Phenomena |
| D009433 | Neural Inhibition |
| D009435 | Synaptic Transmission |
| D009424 | Nervous System Physiological Phenomena |
| D055687 | Musculoskeletal and Neural Physiological Phenomena |
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