Baker Gordon Syndrome Natural History Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Brain Magnetic Resonance Imaging (MRI), Whole Genome Sequencing, Induced Pluripotential Stem Cells.
- Who it may be relevant to
- Registry conditions: Rare Diseases, Autism or Autistic Traits, Development Delay, SYT-SSX Fusion Protein Expression. Basic parameters: 0 years — 99 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
Overview
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 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.
Primary outcome measures
- Collection of relevant medical data (retrospective and prospective) [Time frame: 24 months]
- Neurological Assessment Scale [Time frame: 24 months]
- Clinical Global Impressions Scale - Practitioner [Time frame: 24 months]
- Pediatric Evaluation of Disability Inventory [Time frame: 24 months]
- Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) [Time frame: 24 months]
Secondary outcome measures (12)
- Gross motor milestones [Time frame: 24 months]
- Global development assessment scale [Time frame: 24 months]
- Vineland Adaptive Behavior Scales Third Edition [Time frame: 24 months]
- Aberrant behavior assessment (ABC) [Time frame: 24 months]
- Behavior Assessment System for Children (BASC), 3rd Edition [Time frame: 24 months]
- Conners 4th Edition [Time frame: 24 months]
- Motor function assessment [Time frame: 24 months]
- Pediatric Sleep Questionnaire (PSQ) [Time frame: 24 months]
- Test of Everyday Attention for Children 2nd Edition (TEA-Ch2) [Time frame: 24 months]
- NEPSY 2nd edition [Time frame: 24 months]
- The Infant/Toddler Sensory Profile [Time frame: 24 months]
- Mullen Scales of Early Learning [Time frame: 24 months]
Eligibility criteria
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 Exclusion Criteria:
- Less than 18 years old.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- University of Missouri Columbia — Columbia
Publications
- 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. PMID 36291375
Identifiers
NCT: NCT06399952 · 2080722 · SYT1