Nominated by: Sanofi
Organisation in nomination: Sanofi Genzyme
Fabry disease (also Anderson–Fabry) disease, is a rare and heritable genetic disorder. The genetic fault behind the disease affects the function of an enzyme called alpha-galactosidase A (alpha-GAL) that help processes a lipid called globotriaosylceramide (GL-3). In Fabry disease, first described in 1898, GL-3 can accumulate in lysosomes (organelles inside lots of different types of cell throughout the body). It can then build up in blood vessels and other organs, with a risk of mini-strokes in the brain, heart disease, kidney disease and pain. People with Fabry disease can have their life expectancy reduced by 15-20 years.
Enzyme replacement therapy (ERT) was the goal in treating Fabry Disease, rather than treating disease symptoms and, in 2001, Fabrazyme® was approved in the European Union for patients over 8 years old. Fabrazyme is a recombinant human a-GAL A which catalyses the breakdown of GL-3, reducing its amount in the capillary endothelium of the kidney, heart, and skin, delaying or halting the progressive organ damage caused by Fabry disease. Clinical trials showed after 6 months of treatment, GL-3 levels were reduced to trace levels from between 80-96% of patients, in kidney, heart and skin, and treatment for up to 5 years indicated normal GL-3 levels in their blood.
To date, over 5000 patients have been treated with Fabrazyme®.
It is difficult to compile significant information on rare diseases, given how low patient numbers are. To ensure patients’ wellbeing and improve the treatment, in 2001, Sanofi Genzyme also launched the largest international database of patients with Fabry disease. The Fabry registry is a global, observational, and voluntary program that monitors the routine outcomes for patients with Fabry disease, irrespective of disease and treatment status. The registry enhances understanding of the variability, progression, and natural history of the disease, optimizes patient care and evaluates the long-term safety and effectiveness of treatment.
Fabrazyme®, European Medicines Agency