BAG3-DCM Natural History Study

An Observational Study of Patients With Dilated Cardiomyopathy (DCM) Associated With Pathogenic BAG3 Variants

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Heart Diseases; Cardiovascular Diseases; Genetic Diseases; Dilated Cardiomyopathy (DCM)

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.

• Study Type: Observational
• Enrollment (Estimated): 30

Contacts and Locations

• Study Contact: Name: Clinical Information; Phone Number: 646-627-0033; Email: clinicaltrials@rocketpharma.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Prospective Cohort and Retrospective (Non Interventional)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Secondary Outcome Measures

Outcome Measure	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	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

Collaborators and Investigators

• Sponsor: Rocket Pharmaceuticals Inc.

Study record dates

Study Major Dates

• Study Start (Estimated): May 1, 2026
• Primary Completion (Estimated): December 1, 2032
• Study Completion (Estimated): March 1, 2033

Study Registration Dates

• First Submitted: March 12, 2026
• First Submitted That Met QC Criteria: March 17, 2026
• First Posted (Actual): March 20, 2026

Study Record Updates

• Last Update Posted (Actual): March 20, 2026
• Last Update Submitted That Met QC Criteria: March 17, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: Dilated Cardiomyopathy; Cardiomyopathy; BAG3; BCL2-associated Athanogene 3; BAG3-DCM
• Additional Relevant MeSH Terms: Laminopathies; Cardiomegaly; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases; Heart Diseases; Genetic Diseases, Inborn; Cardiomyopathies; Cardiomyopathy, Dilated
• Other Study ID Numbers: RP-NI-A701-0146

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No