Affinia Therapeutics, an innovative gene therapy company developing adeno-associated virus (AAV) treatments for cardiovascular and neurological diseases, has announced a strategic partnership with the DCM Foundation and the Genetic Cardiomyopathy Awareness Consortium (GCAC) to address the critical awareness gap surrounding BAG3 dilated cardiomyopathy (DCM).
Addressing a Devastating Genetic Heart Disease
BAG3 DCM represents a devastating monogenic heart disease affecting more than 70,000 patients across the U.S., Europe, and U.K. regions alone. The BAG3 gene, or Bcl2-associated athanogene 3, encodes for a protein critical to the normal structure and function of heart cells. Patients with BAG3 DCM carry mutations in the BAG3 gene and experience deficiency in functional BAG3 protein, resulting in early onset heart failure that progresses rapidly.
The clinical burden of this condition is severe. Despite current standard of care treatments, almost 25% of patients require a heart transplant. According to research published in Circulation, the journal of the American Heart Association, close to 50% of cardiomyopathy cases have some type of genetic basis, such as BAG3 DCM. However, only a fraction of diagnosed cardiomyopathy patients receive genetic testing, creating a significant diagnostic gap.
Partnership Initiatives and Patient-Centered Approach
The collaboration between Affinia and the DCM Foundation and GCAC encompasses several key initiatives designed to address the unmet needs in BAG3 DCM diagnosis and management:
The partnership will establish a BAG3 Patient Advisory Council to offer insight and feedback into patient needs, incorporating the patient voice from people living with BAG3 DCM to inform research and clinical trial design. Additionally, the organizations will conduct BAG3 DCM webinars to educate healthcare professionals and patients about genetics and cardiovascular disease, featuring the latest advances in research and development.
A central focus of the collaboration involves promoting genetic testing for BAG3 DCM to improve diagnosis and management of patients affected with this devastating disease.
Advancing Gene Therapy Development
The partnership comes as Affinia advances its lead program, AFTX-201, for BAG3 DCM. AFTX-201 is a potential best-in-class investigational AAV gene therapy intended to be administered as a simple one-time intravenous injection. The company is working toward an Investigational New Drug submission and clinical trial initiation for this candidate.
"BAG3 DCM is a devastating heart disease with a known genetic cause. Unfortunately, only a fraction of patients affected with BAG3 DCM and other genetic cardiomyopathies are tested, which is putting lives at risk," said Hideo Makimura, M.D., Ph.D., Chief Medical Officer of Affinia. "We are committed to working together with the DCM Foundation and GCAC to increase disease awareness and the role genetics plays in cardiomyopathy, which we believe will ultimately lead to better outcomes for people living with BAG3 DCM."
Industry Impact and Future Outlook
Greg Ruf, Founder and Executive Director of the DCM Foundation, emphasized the potential impact of increased genetic testing: "By getting more cardiomyopathy patients tested, we can potentially save and improve lives and help advance cardiomyopathy research and therapies. Through this collaboration, we will collectively unite our strengths and work together in the hope of making a real difference for those living with this devastating disease."
Rick Modi, Affinia's Chief Executive Officer, described the partnership as "an exciting milestone" as the company advances AFTX-201 toward clinical development, aligning with Affinia's mission to make a lasting positive impact in the lives of people affected by devastating rare and prevalent diseases where the genetic cause is understood.
The DCM Foundation, founded in 2018, focuses on providing hope and support to DCM patients and families through education, research, and advocacy. In 2023, the foundation created the Genetic Cardiomyopathy Awareness Consortium, comprising 11 patient group members, to address the significant knowledge gap about genetics and genetic testing in the cardiomyopathy patient and medical community.
