Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis: Gene-Shortening Time of Evaluation in Pediatric Epilepsy Services (Gene-STEPS)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 600
- 试验地点
- 2
- 主要终点
- Diagnostic Yield
研究概览
简要总结
The goal of this study is to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families.
详细描述
Infantile epilepsies are common, affecting 1 in 1000 infants, and are associated with significant morbidity, mortality, healthcare costs, and caregiver burden. Although most infantile epilepsies are believed to have genetic causes, most infants with epilepsy remain genetically "unsolved" and the full genetic landscape of infantile epilepsies is unknown, which limits our ability to develop precision therapies and ultimately improve outcomes for this vulnerable population. This study aims to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families, contributing to knowledge that will inform our scientific understanding of normal and abnormal brain development and guide clinical care and implementation of precision medicine for infants with epilepsy.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Health Services Research
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Infant Criteria
- •Inclusion Criteria:
- •Seizure onset at less than 12 months of age
- •Enrollment within 6 weeks of seizure-related presentation
- •Patient at Boston Children's Hospital
排除标准
- •Simple febrile seizures
- •Acute provoked seizures (e.g., due to sepsis, hemorrhage, electrolyte abnormality, cerebral infarction, hypoxic ischemic encephalopathy, non-accidental injury)
- •Genetic or acquired cause of epilepsy already identified, including brain magnetic resonance imaging findings consistent with a specific genetic etiology (e.g., tuberous sclerosis complex)
- •Deceased prior to enrollment
- •Parent Criteria Inclusion Criteria - Parent of eligible infant (see above)
- •Exclusion Criteria
- •- Not the legal guardian of the eligible infant
研究组 & 干预措施
Genomic Sequencing
All enrolled infants receive the intervention (genomic sequencing, including rapid genome sequencing). Comprehensive genomic analyses will be performed to identify genetic diagnoses. Genetic results will be returned to families and infants will be followed until 2.5 years old to evaluate the impact of genetic diagnosis using quantitative validated outcome measures and qualitative parent interviews.
干预措施: Genomic Sequencing (Genetic)
结局指标
主要结局
Diagnostic Yield
时间窗: Collected after return of genetic results approximately 2 weeks after infant is enrolled
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled infants with epilepsy who receive a genetic diagnosis.
Short-term clinical utility of genetic testing
时间窗: Collected after return of genetic results approximately 2 weeks after infant is enrolled
The short-term clinical utility of genetic testing will be evaluated using the validated C-GUIDE measure. The C-GUIDE total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Parent-perceived (personal) utility of genetic testing
时间窗: Collected when infant is 2.5 years old
The parent-perceived utility of genetic testing will be evaluated using the validated GENE-U measure. The GENE-U total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
次要结局
- Developmental progress(Collected when infant is 2.5 years old)
- Seizure frequency(Collected at return of genetic results approximately 2 weeks after infant is enrolled and when infant is 2.5 years old)
- Parental experiences with genetic testing(Collected when infant is 2.5 years old)
研究者
Alissa D'Gama
Assistant Professor of Pediatrics
Boston Children's Hospital