Cardiovascular Diseases, Dilated Cardiomyopathy (DCM), Genetic Diseases, Heart Diseases
Conditions
Keywords
BAG3, Dilated Cardiomyopathy, BAG3-DCM, Cardiomyopathy, BCL2-associated Athanogene 3
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
Rocket Pharmaceuticals Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria: Subjects are eligible for inclusion into the study only if all the following criteria apply: General: 1. Adult patients 18 years or older at the time of providing informed consent (i.e., signing the ICF). 2. Capable and willing to provide signed informed consent, which includes compliance with the requirements and restrictions listed in the ICF and protocol. 3. 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. 4. Documentation of a pathogenic or likely pathogenic variant in BAG3 by a CLIA-certified or equivalent genetic testing laboratory. 5. NYHA class I-III 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Cardiac structure and function | 48 months | Evaluate cardiovascular health as assessed by cardiac biomarkers and the occurrence of clinical outcomes related to the cardiovascular system. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| NYHA Classification | 48 months | Evaluation over duration of follow up |
| Change in arrhythmias or risk factor for ventricular arrhythmias | 48 months | Evaluate changes in health status as assessed by occurrence of clinical outcomes |
| Heart rhythm and rate monitoring measures | 48 months | Evaluation of change over duration of follow up |
| Cardiac biomarkers and blood proteomics | 48 months | Evaluation of change over duration of follow up |
| Evaluate patient reported outcomes and quality of life measures | 48 months | Evaluate patient reported outcomes and quality of life measures using validated questionnaire. |
| Evaluate changes in health status | 48 months | Evaluate changes in health status as assessed by occurrence of clinical outcomes |
| Event free survival | 48 months | Evaluation over duration of follow up |
| Anti-AAV9 titer | 48 months | Change in antibody assay findings over time |
| Tissue expression of BAG3 protein and DCM features | 48 months | Change in protein expression and histopathologic features |
Contacts
CONTACTClinical Information
Outcome results
None listed