An Observational Study of Patients With Dilated Cardiomyopathy (DCM) Associated With Pathogenic BAG3 Variants
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 30
- 主要终点
- Cardiac structure and function
研究概览
简要总结
The goal of this international observational study is to learn about the natural history of Dilated Cardiomyopathy (DCM) arising from pathogenic BAG3 variants in adult patients ≥18 years of age.
详细描述
This is an observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of BAG3-DCM including the signs and symptoms, key clinical events, and 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.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subjects are eligible for inclusion into the study only if all the following criteria apply:
- •Adult patients 18 years or older at the time of providing informed consent (i.e., signing the ICF).
- •Capable and willing to provide signed informed consent, which includes compliance with the requirements and restrictions listed in the ICF and protocol.
- •Diagnosis of DCM as defined by mild to moderate systolic dysfunction performed within 12 months of enrollment and confirmed by the principal investigator that the DCM is predominantly non-ischemic.
- •Documentation of a pathogenic or likely pathogenic variant in BAG3 by a CLIA-certified or equivalent genetic testing laboratory.
- •NYHA class I-III
排除标准
- •All Cohorts:
- •1. 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 results
- •Previous treatment with gene therapy
- •Gene testing indicates that the patient's arrhythmia or cardiomyopathy may be related to a genetic etiology other than BAG3 variant.
- •4. NYHA class IV HF.
- •Presence or requirement for MCS or predicted need for MCS or heart transplantation within 6 months prior to enrollment.
- •6. Prior heart transplantation.
- •Known infection with human immunodeficiency virus (HIV).
- •Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.
结局指标
主要结局
Cardiac structure and function
时间窗: 48 months
Evaluate cardiovascular health as assessed by cardiac biomarkers and the occurrence of clinical outcomes related to the cardiovascular system.
次要结局
- NYHA Classification(48 months)
- Change in arrhythmias or risk factor for ventricular arrhythmias(48 months)
- Heart rhythm and rate monitoring measures(48 months)
- Cardiac biomarkers and blood proteomics(48 months)
- Evaluate patient reported outcomes and quality of life measures(48 months)
- Evaluate changes in health status(48 months)
- Event free survival(48 months)
- Anti-AAV9 titer(48 months)
- Tissue expression of BAG3 protein and DCM features(48 months)