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The term “rare” applies to those diseases affecting a limited number of people with a prevalence below a given cut-off point, which is codified by the legislation of each individual country. The EU sets this threshold at 0.05% of the population, i.e. one case for every 2,000 inhabitants.


Rare diseases create specific problems relating to their rarity, are serious, often chronic and at times progressive, and may appear at birth or during childhood.


All those affected by rare diseases is sometimes difficult to diagnose. They often have difficulty accessing effective treatment, as well as maintaining independence, social, professional and civic integration.


In February 2020 Chiesi launched Chiesi Global Rare Diseases, a new business unit focused on research, development and commercialization of treatments and patient support services for rare and ultra-rare disorders, for which the treatment is limited or missing.


“Chiesi has a long history of success in discovering, developing and commercializing innovative therapies to address unmet needs for people living with rare diseases. With the Chiesi Global Rare Diseases unit, we are taking this to an entirely new level – rededicating and strengthening our efforts to support individuals and families affected by rare diseases all around the world,” said Giacomo Chiesi, Head of Chiesi Global Rare Diseases.


Chiesi Group commercializes treatments for alpha‑mannosidosis, Leber’s hereditary optic neuropathy, nephropathic cystinosis. The company is also building and advancing a pipeline of innovative therapies for the treatment of LSDs. Chiesi acquired the worldwide rights to an investigational therapy currently in Phase 3 clinical trials for the potential treatment of Fabry disease.


In 2020 Chiesi acquired the worldwide rights to a treatment for thalassemia from the Canadian firm Apotex. Thalassemia Major is a genetic disease that affects the body's ability to make red blood cells. As a result, these cells have a shorter life, are more easily destroyed, and patients need continuous blood transfusions, a process leading to the accumulation of iron in the body. For the needs of these people, the first oral chelator is provided, which binds the excess iron and removes it from the body, preventing the development of iron-induced cardiovascular diseases and significantly reducing the risk of cardiovascular death.