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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Prospective Cohort and Retrospective (Non Interventional) |
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| Measure | Description | Time Frame |
|---|---|---|
| Cardiac structure and function | Evaluate cardiovascular health as assessed by cardiac biomarkers and the occurrence of clinical outcomes related to the cardiovascular system. | 48 months |
| Measure | Description | Time Frame |
|---|---|---|
| NYHA Classification | Evaluation over duration of follow up | 48 months |
| Change in arrhythmias or risk factor for ventricular arrhythmias | Evaluate changes in health status as assessed by occurrence of clinical outcomes |
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Key Inclusion Criteria:
Subjects are eligible for inclusion into the study only if all the following criteria apply:
General:
Key Exclusion Criteria:
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 2. Previous treatment with gene therapy 2. 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. 5. Presence or requirement for MCS or predicted need for MCS or heart transplantation within 6 months prior to enrollment.
6. Prior heart transplantation. 7. Known infection with human immunodeficiency virus (HIV). 8. Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.
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Adult patients 18 years and over (at the point of consenting) with confirmed Dilated Cardiomyopathy (DCM) arising from pathogenic BAG3 Variants recruited from a range of applicable care settings.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Clinical Information | Contact | 646-627-0033 | clinicaltrials@rocketpharma.com |
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| ID | Term |
|---|---|
| D002311 | Cardiomyopathy, Dilated |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009202 | Cardiomyopathies |
| ID | Term |
|---|---|
| D006332 | Cardiomegaly |
| D000083083 | Laminopathies |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| 48 months |
| Heart rhythm and rate monitoring measures | Evaluation of change over duration of follow up | 48 months |
| Cardiac biomarkers and blood proteomics | Evaluation of change over duration of follow up | 48 months |
| Evaluate patient reported outcomes and quality of life measures | Evaluate patient reported outcomes and quality of life measures using validated questionnaire. | 48 months |
| Evaluate changes in health status | Evaluate changes in health status as assessed by occurrence of clinical outcomes | 48 months |
| Event free survival | Evaluation over duration of follow up | 48 months |
| Anti-AAV9 titer | Change in antibody assay findings over time | 48 months |
| Tissue expression of BAG3 protein and DCM features | Change in protein expression and histopathologic features | 48 months |