The European Union defines a disease as rare if it affects no more than 5 in 10,000 people in the EU. Up to 8,000 rare diseases exist worldwide. In Spain the estimation are 3 million people affected by a rare desease. While in the EU the number is estimated at 30 million.
In most cases, rare diseases present a highly complex clinical picture. One thing that they have in common is a typically chronic progression. Sufferers are frequently affected by disabilities and/or have a limited life expectancy. Symptoms generally appear in childhood. Around 80% of rare diseases have genetic origins or are in part due to genetic damage, and they are seldom curable.
CHIESI DEDICATES ITSELF TO THE FOLLOWING RARE DISEASES
Alpha-mannosidosis is a rare and serious hereditary genetic disease resulting from an enzymatic deficiency which causes a build-up of lysosomal enzymes. The disease is generally found in two forms which differ in severity of symptoms and age of onset, and appears either at birth or during early childhood. Its incidence stands at about 1 case for every 500,000 newborns.
Some children are already born with malformations or develop them in their first year, whereas others often do not appear to have problems at birth, but their condition then progressively worsens. The main symptoms of the disease include immunodeficiency, skeletal abnormalities, deafness, gradual impairment of mental and linguistic functions and, often, episodes of psychosis.
Through the acquisition of Zymenex, a Scandinavian biotech company, we intend to provide an answer to this serious condition with a therapy which replaces the missing enzyme, thus acting upon the cause of this disease.
Limbal stem cell deficiency (LSCD)
A clear, intact cornea is absolutely essential for clear vision. As the “window of the eye” and its outermost part, the cornea completely renews itself every seven to nine days. This is the job of stem cells, which ensure that the cornea regenerates continuously. These stem cells are found in the limbus, the transition zone between the transparent cornea and the sclera. If this area becomes damaged as the result of an injury, this is referred to as limbal stem cell deficiency (LSCD). Sufferers endure pain and photosensitivity as well as impaired eyesight. In the worst cases sufferers can even lose their sight entirely. Around 3.3 in 100,000 people in the EU are affected by LSCD.
It is hoped that stem cell therapies will bring about significant improvements in future.
Stem cell therapy
Stem cell therapy is a treatment method that utilises stem cells. Whilst normal cells that are capable of division can only yield cells of the same type, stem cells do not have a fixed function in the body and have the ability to develop into different types of cells and tissue. At the same time, they create daughter cells that in turn possess the characteristics of stem cells.
This remarkable ability is what makes stem cells so interesting in medical applications. Stem-cell-based therapies aim to replace, repair or support the regeneration of the patient’s damaged cells or tissue, for example, in cancers such as leukaemia, neurodegenerative disorders and degenerative diseases, e.g. of the bones, cartilage and connective tissue. Stem cells are found in embryos, foetuses and have been proven to exist in many organs in the human body. Depending on where the stem cells originate, we differentiate between embryonic (from an embryo), foetal (from a foetus) and adult (taken from a human body after birth) stem cells.