Cardiology Diseases

Getting to the Heart of Fabry

Our Focus

Fabry Disease Cardiomyopathy

Fabry disease is a monogenic systemic lysosomal storage disease syndrome caused by mutations in the GLA gene, which encodes for the alpha-galactosidase A (AGA) enzyme that results in the body’s inability to produce sufficient AGA enzyme activity, causing the accumulation of toxic levels of sphingolipids, such as the substrate globotriaosylceramide-3 (Gb3), in critical organs, including the heart, kidney, and blood vessels. The cardiomyopathy in Fabry disease is the leading cause of death, accounting for up to 75% of deaths; cardiomyopathy is caused by the accumulation of toxic sphingolipids in the heart muscle cells. Current therapies rely on AGA delivery to organs via the blood (ERT, PEGylated ERT, and gene therapy from the liver), and these treatments have not been definitively shown to benefit heart disease.

Cardiology Clinical Trials

About 4D-310 for the Treatment of Fabry Disease Cardiomyopathy

4D-310 is being evaluated in the INGLAXA clinical trial, a Phase 1/2 clinical trial in adult patients (females and males) with either classic or late-onset Fabry disease. The primary endpoints are to determine the safety, tolerability, and Phase 2 dose level of 4D-310. Secondary endpoints include cardiac assessments of biological activity in the heart, including cardiac MRI (assess substrate levels over time), echocardiography (assess left ventricular function over time), cardiopulmonary exercise testing (CPET; assess exercise capacity over time), and quality-of-life assessments (Kansas City Cardiomyopathy Questionnaire).

Patient Advocacy Collaborators

Fabry Support & Information Group

It is the mission of the Fabry Support & Information Group (FSIG) to raise awareness of Fabry disease and its symptoms, to advocate for community needs and to lead the fight for the most effective treatment possible and eventually a cure. FSIG provides a link for the Fabry community to information, each other, the medical community, researchers, the pharmaceutical industry and regulatory authorities. FSIG strives to support affected families and individuals to lead fuller lives.

Language courtesy of FSIG

National Fabry Disease Foundation

The National Fabry Disease Foundation (NFDF) is an organization dedicated to supporting the Fabry disease community. Their five primary functions include: education, facilitating disease diagnosis, providing various forms of assistance, supporting disease research and promoting advocacy for Fabry disease issues.

Language courtesy of NFDF

Canadian Fabry Association

The mission of the Canadian Fabry Association (CFA) is to inspire hope and improve the quality of life for all those affected by Fabry Disease through the support of research, public education, advocacy and awareness.

Language courtesy of CFA

Fabry Australia

Fabry Australia’s mission is ‘Uniting and Supporting the Australian Fabry Community’.

Language courtesy of Fabry Australia