In Europe, a disease is rare when it occurs in less than 1 in 2,000 people. A disease can be rare in one region, but can be more common in another. There are also common diseases with rare variants. Taken together, there are thousands of rare diseases.
Rare diseases are problematic because of their rarity, they are serious, often chronic and sometimes progressive. Although almost all genetic diseases are rare, not all rare diseases have a genetic origin. For example, there are also very rare infectious diseases, rare autoimmune diseases and rare forms of cancer.
The cause is often unknown. Rare diseases didn't get the same attention as other diseases for a long time. This had a major impact on the amount of research that was invested into these diseases. Also policies weren't there for a long time. For most rare diseases there is no drug, but proper treatment and medical care can improve the quality of life and prolong life expectancy.
It is difficult for patients with rare diseases to receive information, to consult the right specialists, to get diagnosed and to get access to an effective medical treatment. Their disease remains often unknown.
Chiesi is committed to the treatment of:
Limbal stem cell deficiency: the corneal transparency is essential to be able to see properly. LSCD can occur after a thermal or chemical corneal, which makes it opaque.
Chronic alpha mannosidases is a rare and severe hereditary genetic disease that results from a lack or lack of an enzyme in a lysosome, which has to break down a molecule. Because this can not be broken, it picks up. Approximately 1 patient in 500,000 newborns turns out to be a LSCD patient.
Nephropathic cystinosis is a rare metabolic disease. The condition is hereditary, with parents usually not knowing that they are bearers. Cystinosis affects about 1 in 100,000 to 200,000 newborns worldwide. Cystinose is characterized by a stack of amino acid cystine in different organs of the body, such as: kidneys, eyes, muscles, pancreas and brain. Not all organs are affected at the same time and to the same extent. In the most common form, nephropathic cystinosis, the kidneys are first affected.