A Study About the Natural History in Adults With BAG3 Dilated Cardiomyopathy (a Type of Heart Disease) (BAG3 DCM) (BAG3 DCM)

June 10, 2026 updated by: Alexion Pharmaceuticals, Inc.

A PROSPECTIVE MULTINATIONAL STUDY OF THE NATURAL HISTORY OF PARTICIPANTS WITH BAG3 MUTATION ASSOCIATED DILATED CARDIOMYOPATHY

The purpose of this study is to learn about the natural progression of DCM (dilated cardiomyopathy) caused by BAG3 gene mutations. DCM is a condition as the heart muscle is weakened and the heart becomes enlarged. This makes it hard for the heart to pump enough blood for the body.

The study is seeking up to about 35 participants who have:

  • BAG3 mutation (change in the gene) that causes or is likely to cause dilated cardiomyopathy
  • NYHA (New York Heart Association) Class I-IV at screening (Stage B-D)
  • Left Ventricular Ejection Fraction less than or equal to 50% (meaning reduced heart function)

All participants in this study will receive their usual treatment. The investigators will observe the natural progression of people who have BAG3 DCM. This will help the investigators better understand the disease and aid in future research.

Participants will take part in this study for three years. During this time, participants will visit the site at least 8 times (about every 3 months for the first year and annually during year 2 and three). Participants will undergo study procedures and give information about their health. These procedures will include a physical exam, cardiac magnetic resonance imaging, echocardiography, ECG monitoring, activity monitoring, cardiopulmonary exercise testing, and blood tests. Participants will answer questions about health and quality of life. The study team will also call participants about 1 time over the phone.

Study Overview

Status

Active, not recruiting

Conditions

Study Type

Observational

Enrollment (Actual)

35

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Netherlands
    • Amsterdam
      • Amsterdam, Amsterdam, Netherlands, 1105 AZ
        • Research Site
    • Maastricht
      • Maastricht, Maastricht, Netherlands, 6229 HX
        • Research Site
  • Poland
    • Warszawa
      • Warsaw, Warszawa, Poland, 04-628
        • Research Site
  • Spain
    • A Coruna
      • A Coruña, A Coruna, Spain, 15006
        • Research Site
    • Madrid
      • Madrid, Madrid, Spain, 28041
        • Research Site
      • Majadahonda, Madrid, Spain, 28222
        • Research Site
    • Murcia
      • El Palmar, Murcia, Spain, 30120
        • Research Site
  • United Kingdom
    • London
      • Harefield, London, United Kingdom, UB9 6JH
        • Research Site
      • London, London, United Kingdom, EC1A 7BE
        • Research Site
  • United States
    • California
      • Palo Alto, California, United States, 94305
        • Research Site
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Research Site
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Research Site
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Research Site
    • New York
      • The Bronx, New York, United States, 10467
        • Research Site
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Research Site

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

primary care clinic and referrals from primary care clinic to investigational sites

Description

Inclusion Criteria:

  • Documented BAG3 mutation that causes or is likely to cause dilated cardiomyopathy
  • Heart failure Stage B-D, New York Heart Association (NYHA) Class I-IV
  • Left Ventricular Ejection Fraction ≤50% (i.e., Reduced Heart Function)

Exclusion Criteria:

  • Acute decompensated heart failure within 1 month prior to enrollment.(such as hospitalization)
  • Any of the following within 3 months prior to screening: myocardial infarction (MI), cardiac surgical procedures (other than for pacemaker/ICD/CRT-defibrillator [CRT-D] implantation), acute coronary syndrome, or hospitalization for cardiac arrhythmia.
  • History of heart transplantation
  • eGFR <30 mL/min/1.73 m2 (significantly impaired kidney function)
  • Noncardiac condition that limits lifespan to <1 year.
  • Presence of other form(s) of cardiomyopathy contributing to heart failure
  • Previous administration with an investigational drug within 30 days (or as determined by the local requirement).
  • No more than 3 first-degree members of the same family who are already participating in the study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
BAG3 DCM
A single arm observational trial where all participants will undergo the same schedule of assessments.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Determine baseline of cardiac structure and function in BAG3 associated DCM.
Time Frame: Baseline
Baseline measures of left ventricular volumes at end systole and diastole using imaging at baseline.
Baseline
Determine changes over time in cardiac structure and function in BAG3 associated DCM.
Time Frame: 3 years
Changes over time of left ventricular volumes at end systole and diastole using imaging over the course of 3 years follow up time.
3 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change from Baseline in high sensitivity troponin I (hsTNI) levels
Time Frame: Baseline to year 3
HsTNI will be collected at baseline through 3 years to observe the natural history (baseline and variance) of the biomarker and the correlation of hsTNI to severity of clinical disease progression.
Baseline to year 3
Change from Baseline in high sensitivity troponin T (hsTNT) levels
Time Frame: Baseline to year 3
HsTNT will be collected at baseline through 3 years to observe the natural history (baseline and variance) of the biomarker and the correlation of hsTNT to severity of clinical disease progression.
Baseline to year 3
Change from Baseline in N-terminal Prohormone of Pro-Brain-Type Natriuretic peptide (NT-proBNP) levels
Time Frame: Baseline to year 3
NT-proBNP will be collected at baseline through 3 years to observe the natural history (baseline and variance) of the biomarker and the correlation of NT-proBNP to severity of clinical disease progression.
Baseline to year 3
Change from baseline in Measures of Oxygen Capacity
Time Frame: Baseline to year 3
Measured via Cardio Pulmonary Exercise Testing (CPET).
Baseline to year 3
Change from Baseline in Scores of Kansas City Cardiomyopathy Questionnaire (KCCQ) domains
Time Frame: Baseline to year 3
Baseline to year 3
Change from Baseline in Scores of Patient Global Impression of Severity (PGI-S)
Time Frame: Baseline to year 3
Baseline to year 3
Change from Baseline in Scores of Patient Global Impression of Change (PGI-C)
Time Frame: Baseline to year 3
Baseline to year 3
Define the rate of cardiac status changes over time.
Time Frame: 3 years
The frequency and rate of incidence of death, heart transplant, MCS, heart failure, hospitalization, appropriate implantable cardioverter defibrillator shock, or aborted SCD.
3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Alexion Pharmaceuticals, Inc.

Investigators

  • Study Director: Pfizer CT.gov Call Center, Pfizer

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 14, 2022

Primary Completion (Estimated)

August 12, 2027

Study Completion (Estimated)

August 12, 2027

Study Registration Dates

First Submitted

June 14, 2023

First Submitted That Met QC Criteria

July 31, 2023

First Posted (Actual)

August 8, 2023

Study Record Updates

Last Update Posted (Actual)

June 12, 2026

Last Update Submitted That Met QC Criteria

June 10, 2026

Last Verified

June 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • R0765C00001
  • C4981001 (Other Identifier: Alexion)
  • ALXN2350-DCM-501 (Other Identifier: Alexion)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Alexion has a public commitment to allow requests for access to study data and will be supplying a protocol, CSR, and plain language summaries.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • SAP
  • CSR

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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