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NCT Number: NCT05981092

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

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.

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This study is active but is not currently recruiting participants.

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Key information

Conditions

Cardiomyopathy, Dilated Bcl-2 Anathogene-3 (BAG3) Dilated Cardiomyopathy (DCM) Cardiomegaly Cardiomyopathies Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heart Diseases Laminopathies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Research Site, Amsterdam, Netherlands

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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.

  2. 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.

Secondary outcomes

  1. 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.

  2. 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.

  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.

  4. Change from baseline in Measures of Oxygen Capacity

    Time frame: Baseline to year 3

    Measured via Cardio Pulmonary Exercise Testing (CPET).

  5. Change from Baseline in Scores of Kansas City Cardiomyopathy Questionnaire (KCCQ) domains

    Time frame: Baseline to year 3

  6. Change from Baseline in Scores of Patient Global Impression of Severity (PGI-S)

    Time frame: Baseline to year 3

  7. Change from Baseline in Scores of Patient Global Impression of Change (PGI-C)

    Time frame: Baseline to year 3

  8. 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.

Sponsors and collaborators

Lead sponsor

Alexion Pharmaceuticals, Inc.

Industry

Registry information

Official study title

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

Important dates

Study start
2022
Primary completion
2027
Study completion
2027
First posted
Aug 8, 2023
Registry last updated
Jun 12, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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