Observational Study of Natural History of BAG3 Gene Mutation-Associated Dilated Cardiomyopathy in Chinese Adults

NCT07646600 | Not Yet Recruiting

• 1 other identifier: D9030R00003
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

This is a multicentre, prospective cohort study designed to elucidate the natural history of dilated cardiomyopathy (DCM) associated with specific gene mutations in Chinese patients. By establishing a cohort of patients with inherited cardiomyopathy, the study will collect comprehensive data, including demographic characteristics, disease history, clinical features, prior treatments, current treatment patterns, clinical outcomes, and patient-reported outcomes (PROs). The objective is to describe the disease profile, current diagnostic and therapeutic landscape, clinical progression, and prognosis of this specific patient population in China. The data generated will provide a foundational basis for deepening the understanding of disease progression, identifying unmet clinical needs, and exploring potential surrogate endpoints for future clinical trials in drug development. The study plans to enroll 10 eligible patients with BCL-2-associated athanogene 3 (BAG3)-associated inherited DCM from 3 research sites across China.

Conditions

Dilated Cardiomyopathy

Keywords

BAG3 ; Dilated cardiomyopathy; Observational Cohort Study

Outcome Measures

Primary Outcomes (4)

• changes in cardiac imaging parameters, left ventricular ejection fraction (LVEF) and global longitudinal strain (GLS)

  Primary endpoints include changes from baseline in cardiac structure and function parameters, left ventricular ejection fraction (LVEF) and global longitudinal strain (GLS), at Month 12 and subsequent follow-ups. Changes in the above imaging assessment results are presented as continuous numerical variables and the results of changes expressed as percentages.

  Baseline (at Day 1 post-enrollment), 12 months and 24 months

• changes in cardiac imaging parameters, left ventricular end diastolic diameter (LVEDD)

  Primary endpoints include changes from baseline in cardiac structure and function parameters, left ventricular end diastolic diameter (LVEDD), at Month 12 and subsequent follow-ups. Changes in the above imaging assessment results are presented as continuous numerical variables and the results of changes expressed as percentages.

  Baseline (at Day 1 post-enrollment), 12 months and 24 months

• changes in cardiac imaging parameters, left ventricular end systolic volume index (LVESVi) and left ventricular end diastolic volume index (LVEDVi)

  Primary endpoints include changes from baseline in cardiac structure and function parameters, left ventricular end systolic volume index (LVESVi) and left ventricular end diastolic volume index (LVEDVi), at Month 12 and subsequent follow-ups. Changes in the above imaging assessment results are presented as continuous numerical variables and the results of changes expressed as percentages.

  Baseline (at Day 1 post-enrollment), 12 months and 24 months

• changes in cardiac imaging parameters, left ventricular mass index (LVMi)

  Primary endpoints include changes from baseline in cardiac structure and function parameters, left ventricular mass index (LVMi), at Month 12 and subsequent follow-ups. Changes in the above imaging assessment results are presented as continuous numerical variables and the results of changes expressed as percentages.

  Baseline (at Day 1 post-enrollment), 12 months and 24 months

Secondary Outcomes (6)

• Circulating Biomarkers

  Baseline (at Day 1 post-enrollment), 3 months, 6 months, 12 months, 18 months, and 24 months

• Peak oxygen capacity (VO₂) measured by cardiopulmonary exercise testing (CPET)

  Baseline (at Day 1 post-enrollment) and 12 months.

• Kansas City Cardiomyopathy Questionnaire-23 (KCCQ-23)

  Baseline (at Day 1 post-enrollment), 3 months, 6 months, 12 months, 18 months, and 24 months

• EuroQol 5-Dimension 5-Level Health Scale (EQ-5D-5L)

  Baseline (at Day 1 post-enrollment), 3 months, 6 months, 12 months, 18 months, and 24 months

• The medical outcomes study 36-item short-form health survey (SF-36)

  Baseline (at Day 1 post-enrollment), 3 months, 6 months, 12 months, 18 months, and 24 months

Study Arms (1)

patients with BAG3 DCM

Approximately 10 patients with BAG3 DCM will be enrolled from 3 research sites in China. Comprehensive clinical data, including demographic characteristics, medical history, clinical manifestations, treatment records, clinical outcomes, and PROs, will be collected.

Other: Observational, None intervention

Interventions

Observational, None intervention OTHER

Observational, None intervention

patients with BAG3 DCM

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

BAG3 DCM

You may qualify if:

• Age ≥18 years at screening, male or female;
• Presence of a BAG3 pathogenic or likely pathogenic mutation interpreted according to the American College of Medical Genetics and Genomics (ACMG) guidelines;
• Heart failure (HF) Stage B or C, New York Heart Association (NYHA) functional class I-III;
• LVEF ≤50%. If LVEF is 45%-50% and the participant is classified as Stage B heart failure or NYHA Class I, N-terminal pro-B-type natriuretic peptide (NT-proBNP) must be ≥300 pg/mL. LVEF measurement must be based on echocardiography or cardiac magnetic resonance results within the past 12 months;
• Willing and able to comply with all scheduled visits, laboratory tests, and other study procedures;
• Capable of providing signed informed consent, including compliance with the requirements and restrictions listed in the informed consent form and this protocol.

You may not qualify if:

• Participants meeting any of the following criteria will be excluded:
• Acute decompensated heart failure within 1 month prior to enrollment;
• Any of the following within 3 months prior to screening:
• Myocardial infarction
• Cardiac surgical procedures (excluding pacemaker/implantable cardioverter defibrillator/cardiac resynchronization therapy implantation)
• Implantable cardioverter defibrillator (ICD) implantation
• Acute coronary syndrome
• Hospitalization for cardiac arrhythmia
• History of heart transplantation;
• Estimated glomerular filtration rate (eGFR) \<30 mL/min/1.73 m² (calculated using the Chronic Kidney Disease Epidemiology Collaboration formula);
• Active malignancy or malignancy diagnosed within 3 years prior to screening, except for:
• Surgically cured in situ malignancies
• Surgically cured early-stage cancers (including breast, prostate, skin \[basal cell carcinoma, squamous cell carcinoma\], thyroid, or cervical cancer)
• Other early-stage malignancies with an expected 2-year recurrence rate ≤20%, approved by the Medical Monitor
• Non-cardiac condition limiting life expectancy to \<1 year;

Sponsors & Collaborators

• AstraZeneca: lead

Study Sites (1)

Research Site

Beijing, China

Location

Biospecimen

Retention: NONE RETAINED

Whole blood

MeSH Terms

Conditions

Cardiomyopathy, Dilated

Condition Hierarchy (Ancestors)

Cardiomegaly; Heart Diseases; Cardiovascular Diseases; Cardiomyopathies; 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: April 29, 2026
• First Posted: June 15, 2026
• Study Start (Estimated): June 29, 2026
• Primary Completion (Estimated): June 29, 2029
• Study Completion (Estimated): June 29, 2029
• Last Updated: June 15, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will share
• Time Frame: AstraZeneca will meet or exceed data availability as per the commitments made to the EFPIA/PhRMA Data-Sharing Principles. For details of our timelines, please refer to our disclosure commitment at https://astrazenecagrouptrials.pharmacm.com/ST/Submission/Disclosure.
• Access Criteria: When a request has been approved AstraZeneca will provide access to the anonymized individual patient-level data via secure research environment Vivli.org. A Signed Data Usage Agreement (non-negotiable contract for data accessors) must be in place before accessing requested information.

Locations

CN (1)