A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 2
- 主要终点
- Collection of relevant medical data (retrospective and prospective)
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Collection of relevant medical data (retrospective and prospective)
时间窗: 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
时间窗: 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
时间窗: 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
时间窗: 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)
时间窗: 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.
次要结局
- Gross motor milestones(24 months)
- Global development assessment scale(24 months)
- Vineland Adaptive Behavior Scales Third Edition(24 months)
- Aberrant behavior assessment (ABC)(24 months)
- Behavior Assessment System for Children (BASC), 3rd Edition(24 months)
- Conners 4th Edition(24 months)
- Motor function assessment(24 months)
- Pediatric Sleep Questionnaire (PSQ)(24 months)
- Test of Everyday Attention for Children 2nd Edition (TEA-Ch2)(24 months)
- NEPSY 2nd edition(24 months)
- The Infant/Toddler Sensory Profile(24 months)
- Mullen Scales of Early Learning(24 months)
研究者
William David Arnold
Executive Director, UM System NextGen Precision Health Initiative Professor, Physical Medicine and Rehabilitation
University of Missouri-Columbia