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

NCT05981092 | Active Not Recruiting

• 3 other identifiers: R0765C00001C4981001ALXN2350-DCM-501
• Study Type: observational
• Target: 35
• Locations: 5 countries
• Sites: 15

Brief Summary

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.

Conditions

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

Keywords

BAG3; DCM; cardiomyopathy; dilated cardiomyopathy; heritable heart disease; heart disease

Outcome Measures

Primary Outcomes (2)

• 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.

  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.

  3 years

Secondary Outcomes (8)

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

  Baseline to year 3

• Change from Baseline in high sensitivity troponin T (hsTNT) levels

  Baseline to year 3

• Change from Baseline in N-terminal Prohormone of Pro-Brain-Type Natriuretic peptide (NT-proBNP) levels

  Baseline to year 3

• Change from baseline in Measures of Oxygen Capacity

  Baseline to year 3

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

  Baseline to year 3

Study Arms (1)

BAG3 DCM

A single arm observational trial where all participants will undergo the same schedule of assessments.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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)

You may not qualify if:

• 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

Sponsors & Collaborators

• Alexion Pharmaceuticals, Inc.: lead

Study Sites (15)

Research Site

Palo Alto, California, 94305, United States

Location

Research Site

Aurora, Colorado, 80045, United States

Location

Research Site

Boston, Massachusetts, 02115, United States

Location

Research Site

Rochester, Minnesota, 55905, United States

Location

Research Site

The Bronx, New York, 10467, United States

Location

Research Site

Philadelphia, Pennsylvania, 19104, United States

Location

Research Site

Amsterdam, Amsterdam, 1105 AZ, Netherlands

Location

Research Site

Maastricht, Maastricht, 6229 HX, Netherlands

Location

Research Site

Warsaw, Warszawa, 04-628, Poland

Location

Research Site

A Coruña, A Coruna, 15006, Spain

Location

Research Site

Madrid, Madrid, 28041, Spain

Location

Research Site

Majadahonda, Madrid, 28222, Spain

Location

Research Site

El Palmar, Murcia, 30120, Spain

Location

Research Site

Harefield, London, UB9 6JH, United Kingdom

Location

Research Site

London, London, EC1A 7BE, United Kingdom

Location

MeSH Terms

Conditions

Cardiomyopathy, Dilated; Cardiomyopathies; Heart Diseases

Condition Hierarchy (Ancestors)

Cardiomegaly; Cardiovascular Diseases; Laminopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 14, 2023
• First Posted: August 8, 2023
• Study Start: October 14, 2022
• Primary Completion (Estimated): August 12, 2027
• Study Completion (Estimated): August 12, 2027
• Last Updated: June 12, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, CSR

Locations

PL (1); US (6); NL (2); GB (2); ES (4)