Baker Gordon Syndrome Natural History Study

Официальное название

A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance

Обзор

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.

Подробное описание

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.

Вмешательства

• Диагностический тест 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.
• Генная терапия 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.
• Другое Induced Pluripotential Stem Cells
  A 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells.

Первичные конечные точки

• Collection of relevant medical data (retrospective and prospective) [Срок оценки: 24 months]
• Neurological Assessment Scale [Срок оценки: 24 months]
• Clinical Global Impressions Scale - Practitioner [Срок оценки: 24 months]
• Pediatric Evaluation of Disability Inventory [Срок оценки: 24 months]
• Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) [Срок оценки: 24 months]

Вторичные конечные точки (12)

• Gross motor milestones [Срок оценки: 24 months]
• Global development assessment scale [Срок оценки: 24 months]
• Vineland Adaptive Behavior Scales Third Edition [Срок оценки: 24 months]
• Aberrant behavior assessment (ABC) [Срок оценки: 24 months]
• Behavior Assessment System for Children (BASC), 3rd Edition [Срок оценки: 24 months]
• Conners 4th Edition [Срок оценки: 24 months]
• Motor function assessment [Срок оценки: 24 months]
• Pediatric Sleep Questionnaire (PSQ) [Срок оценки: 24 months]
• Test of Everyday Attention for Children 2nd Edition (TEA-Ch2) [Срок оценки: 24 months]
• NEPSY 2nd edition [Срок оценки: 24 months]
• The Infant/Toddler Sensory Profile [Срок оценки: 24 months]
• Mullen Scales of Early Learning [Срок оценки: 24 months]

Критерии участия

Критерии включения

• 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.

Критерии исключения

• 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.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

США · 1 центр

• University of Missouri Columbia — Columbia

Публикации

• 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

Идентификаторы

NCT: NCT06399952 · 2080722 · SYT1

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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