Clinical trial NCT05981092: A Study About the Natural History in Adults With BAG3 Dilated Cardiomyopathy (a Type of Heart Disease) (BAG3 DCM)
Official title: A PROSPECTIVE MULTINATIONAL STUDY OF THE NATURAL HISTORY OF PARTICIPANTS WITH BAG3 MUTATION ASSOCIATED DILATED CARDIOMYOPATHY
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Cardiomyopathy, Dilated
Bcl-2 Anathogene-3 (BAG3) Dilated Cardiomyopathy (DCM)
Keywords: BAG3
DCM
cardiomyopathy
dilated cardiomyopathy
heritable heart disease
heart disease
Lead sponsor: Alexion Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2023-08-08
Enrollment: 35
Sex: ALL
Minimum age (years): 18
Standard ages: 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

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 one year. During this time, participants will visit the site at least 4 times (about every 3 months). 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.


Eligibility criteria: Inclusion Criteria:

* Documented BAG3 mutation that causes or is likely to cause dilated cardiomyopathy
* New York Heart Association (NYHA) Class I-IV at screening (Stage B-D)
* 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

Primary outcomes:
measure: Determine baseline of cardiac structure and function in BAG3 associated DCM.
timeFrame: Baseline
measure: Determine changes over time in cardiac structure and function in BAG3 associated DCM.
timeFrame: 1 year
Secondary outcomes:
measure: Changes in high sensitivity troponin I (hsTNI) levels
timeFrame: Baseline to 1 year
measure: Changes in high sensitivity troponin T (hsTNT) levels
timeFrame: Baseline to 1 year
measure: Changes in N-terminal Prohormone of Pro-Brain-Type Natriuretic peptide (NT-proBNP) levels
timeFrame: Baseline to 1 year
Other outcomes:
Locations:
city: Palo Alto
country: United States
facility: Research Site
state: California
city: Aurora
country: United States
facility: Research Site
state: Colorado
city: Boston
country: United States
facility: Research Site
state: Massachusetts
city: Rochester
country: United States
facility: Research Site
state: Minnesota
city: Bronx
country: United States
facility: Research Site
state: New York
city: Philadelphia
country: United States
facility: Research Site
state: Pennsylvania
city: Amsterdam
country: Netherlands
facility: Research Site
city: Maastricht
country: Netherlands
facility: Research Site
city: Warszawa
country: Poland
facility: Research Site
city: Majadahonda
country: Spain
facility: Research Site
state: Madrid
city: El Palmar
country: Spain
facility: Research Site
state: Murcia
city: A Coruna
country: Spain
facility: Research Site
city: Madrid
country: Spain
facility: Research Site
city: Harefield
country: United Kingdom
facility: Research Site
state: London
city: London
country: United Kingdom
facility: Research Site
Study officials:
References: