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

N/AActive Not RecruitingNCT05981092

Alexion Pharmaceuticals, Inc.35 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

Conditions

Cardiomyopathy, Dilated Bcl-2 Anathogene-3 (BAG3) Dilated Cardiomyopathy (DCM)

Eligibility

Medical Language ↔ Plain English

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

Locations (15)

Research Site

Palo Alto, California, United States

Research Site

Aurora, Colorado, United States

Research Site

Boston, Massachusetts, United States

Research Site

Rochester, Minnesota, United States

Research Site

The Bronx, New York, United States

Research Site

Philadelphia, Pennsylvania, United States

Research Site

Amsterdam, Amsterdam, Netherlands

Research Site

Maastricht, Maastricht, Netherlands

Research Site

Warsaw, Warszawa, Poland

Research Site

A Coruña, A Coruna, Spain

...and 5 more locations

Outcomes

Primary Outcomes

Determine baseline of cardiac structure and function in BAG3 associated DCM.

Baseline measures of left ventricular volumes at end systole and diastole using imaging at baseline.

Time frame: Baseline

Determine changes over time in cardiac structure and function in BAG3 associated DCM.

Changes over time of left ventricular volumes at end systole and diastole using imaging over the course of 3 years follow up time.

Time frame: 3 years

Secondary Outcomes

Change from Baseline in high sensitivity troponin I (hsTNI) levels

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.