Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 10
- 主要终点
- To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children
研究概览
简要总结
The overall goal of the study is to establish valid clinical endpoint assessments for children with congenital myotonic dystrophy type 1 and develop biomarkers for the condition.
详细描述
Myotonic dystrophy type-1 (DM1) is an autosomal dominant disorder caused by a toxic CTG repeat expansion in the 3'UTR of the DMPK gene. DM1 is the most common adult-onset muscular dystrophy, with an overall prevalence of 1:8000. In approximately 10-20% of individuals with DM1, the onset of symptoms occurs at birth, which is known as congenital myotonic dystrophy (CDM).
Previous studies have enrolled a very limited number of children with CDM.
The rationale for this study is to include a larger population of patients with CDM in order to determine developmental milestones, measures of physical and cognitive function and quality of life, and correlate functional outcome measures with potential biomarkers in CDM .
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
- — 至 59 Months（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age neonate to 3 years 11 months at enrollment.
- •A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4>1,500).
- •Guardian is willing and able to sign consent and follow study procedures
排除标准
- •Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of the site investigator
- •Significant trauma within one month
- •Internal metal or devices (exclusion for DEXA component)
- •History of bleeding disorder or platelet count <50,000
- •History of reaction to local anesthetic
结局指标
主要结局
To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children
时间窗: Through study completion at 18 months
Milestone Assessment using Peabody definitions: This survey would ask parents to assess the age of motor milestones in days, months of infant age. Birth history, including prematurity, ventilatory status, and feeding problems would also be collected on the CRF. Feeding and ventilatory support, as well as height and weight will be collected at each study visit.
次要结局
- Dysarthria Assessment(Through study completion at 18 months)
- Vineland(Through study completion at 18 months)
- CCMDHI(Through study completion at 18 months)
- Domain Delta(Through study completion at 18 months)
- Gross Motor Function Measure (GMFM-88)(Through study completion 18 months)