Chiesi: Writing a Better Future for Patients With Rare Diseases

Driven by the belief that no patient should be left behind, Chiesi created a business unit in 2019 specifically dedicated to the development and commercialization of products for those with rare diseases. Patients with these diseases can encounter many difficulties, from receiving a timely and accurate diagnosis to accessing effective medical and social care. Chiesi believes this therapeutic area is of great importance, with equally significant impact.

One of the key projects for Chiesi’s Rare Disease division is alpha-mannosidosis. This is a rare genetic disease caused by the impaired function of the lysosomal enzyme alpha- mannosidase. Due to this deficiency, oligosaccharides are only partially broken down and over time, they build up in the body, causing increasing damage to cells and leading to many medical problems.

Alpha-mannosidosis is a heterogeneous disease, presenting a wide range of symptoms. The most frequent are recurrent chest infections and problems with hearing loss, distinctive facial features, cognitive impairment and progressive muscular weakness. Lack of voluntary coordination of muscle movements and skeletal and joint abnormalities can occur, as well. In adulthood, few patients manage to be completely independent socially, needing help with many activities and possibly requiring a wheelchair. High levels of oligosaccharides in urine can point to alpha-mannosidosis. Testing of the mannosidase enzyme’s residual activity and genetic analyses are used to confirm the diagnosis. Alpha-mannosidosis affects approximately one in 1 million babies born worldwide.

Founded in 1935, Chiesi is an Italian company that specializes in the research, development and production of medicines for respiratory, neonatological and cardiovascular diseases. It distributes its products in more than 80 countries. Chiesi entered Mexico in 2006 with CUROSURF, a treatment for RDS.