BAG3-DCM Natural History Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Dilated Cardiomyopathy (DCM), Cardiovascular Diseases, Heart Diseases, Genetic Diseases. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
An Observational Study of Patients With Dilated Cardiomyopathy (DCM) Associated With Pathogenic BAG3 Variants
Overview
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.
Primary outcome measures
- Cardiac structure and function [Time frame: 48 months]
Secondary outcome measures (9)
- NYHA Classification [Time frame: 48 months]
- Change in arrhythmias or risk factor for ventricular arrhythmias [Time frame: 48 months]
- Heart rhythm and rate monitoring measures [Time frame: 48 months]
- Cardiac biomarkers and blood proteomics [Time frame: 48 months]
- Evaluate patient reported outcomes and quality of life measures [Time frame: 48 months]
- Evaluate changes in health status [Time frame: 48 months]
- Event free survival [Time frame: 48 months]
- Anti-AAV9 titer [Time frame: 48 months]
- Tissue expression of BAG3 protein and DCM features [Time frame: 48 months]
Eligibility criteria
Inclusion criteria
Subjects are eligible for inclusion into the study only if all the following criteria apply:
General:
- 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
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT07486752 · RP-NI-A701-0146