An Observational Study of Genetic Cardiomyopathy, Danon Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 60
- 试验地点
- 22
- 主要终点
- Left Ventricular Mass Index (LVMI) by echocardiogram
研究概览
简要总结
The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).
详细描述
This is an international observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of Danon disease, a rare X-linked genetic disorder, and one of the most severe and penetrant forms of inherited cardiomyopathy. This study will collect data about the clinical course of Danon disease, including signs and symptoms, key clinical events, and the impact of the disease on quality of life as managed with the current standard of care. A hybrid (retrospective and prospective data collection) approach is being used to generate robust and longitudinal data. A subset of patients will be used as an External Control Arm for comparison to RP-A501 Trial participants.
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
- 8 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Prospective Cohort:
- •Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
- •Patient or parent/legal guardian are capable and willing to provide signed informed consent
- •Age ≥ 8 years at enrollment
- •Female Prospective Cohort:
- •Evidence of left ventricular hypertrophy in the 12 months prior to or at enrollment.
- •Retrospective (only) Cohort:
- •Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
- •Patient or parent/legal guardian are capable and willing to provide signed informed consent, as required by local regulations
- •Age ≥ 8 years at enrollment
- •Prior cardiac transplantation or prior mechanical circulatory support
- •At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support
- •Female Retrospective (only) Cohort:
- •Prior evidence of left ventricular hypertrophy.
排除标准
- •All Cohorts:
- •Concurrent enrollment in any other clinical investigation involving use of an investigational agent for any condition at time of enrollment to this study that could confound interpretation of this study
- •Previous treatment with a gene therapy
- •Prospective Cohort:
- •Prior mechanical circulatory support at time of enrollment to this study
- •Prior cardiac transplantation at time of enrollment to this study
- •Female patients:
- •Age >51 years at enrollment
研究组 & 干预措施
Retrospective Cohort
干预措施: No intervention (Other)
Prospective Cohort
干预措施: No intervention (Other)
结局指标
主要结局
Left Ventricular Mass Index (LVMI) by echocardiogram
时间窗: Month 12, 24, 36
Evaluation of change over duration of follow up
次要结局
- Cardiac biomarkers (hsTnI)(Month 12, 24, 36 (when available))
- Cardiac biomarkers (NT-proBNP, BNP)(Month 12, 24, 36 (when available))
- NYHA class(Month 12, 24, 36)
- KCCQ-12(Month 12, 24, 36)
- PedsQL(Month 12, 24, 36)
- Event free survival with events defined as death, heart transplant, mechanical circulatory support (MCS) or heart failure hospitalization(Month 12, 24, 36)
- Six Minute Walk Test(Month 12, 24, 36)
- CBC(At enrollment)
- Serum Chemistry(At enrollment)
- ECG(Month 12, 24, 36)
- Anti-AAV9 titer(Month 12, 24, 36)
- Serum chemistry(At enrollment)