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Rare diseases

The term rare applies to those diseases affecting a limited number of people with a prevalence below a given cut-off point.

The EU sets this threshold at 0.05% of the population, i.e. when it affects less than 1 in 2,000 inhabitants. There may be as many as 7,000 rare diseases.1,2


Rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.2,3

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment and they are often chronic, progressive, degenerative, and frequently life-threatening.2

Chiesi Rare Diseases is committed to developing and commercializing products that meet the needs of healthcare providers and their patients.

Patients have been at the center of what we do for decades.

We believe that no patient should be left behind, which is why we decided to create a business unit specifically dedicated to those with rare diseases.

CHIESI Rare Diseases is specifically committed to the following key areas: 


Alpha-mannosidosis is a rare and serious hereditary genetic disease resulting from a lack or deficiency of an enzyme in a lysosome, which has to break down a molecule. Because it cannot be broken down, it accumulates. The incidence is about 1 patient for every 500,000 newborns.


Nephropatic cystinosis is a rare metabolic disease. The disease is hereditary, with parents usually unaware that they are carriers. Cystinosis affects approximately 1 in 100,000 to 200,000 newborns worldwide. Cystinosis is characterized by an accumulation of the amino acid cystine in various 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, nephropatic cystinosis, the kidneys are affected first.


β-Thalassemia major is a serious and hereditary form of anemia. This congenital disease is caused by a change in haemoglobin. Hemoglobin is the red dye in the red blood cells. An important function of hemoglobin is the absorption and release of oxygen in tissues and organs. In case of thalassemia, less or no haemoglobin is made which leads to a disruption of this function of the haemoglobin that leads to various complaints. The incidence of β-thalassemia major differs greatly per country/region.


Leber disease is also called Leber Opticus Atrophy (LOA) or Leber Hereditairy Optic Neuropathy (LHON). This disease is caused by an error in the DNA. It is a rare eye disease in which the cells in the optic nerve do not function properly. Vision often decreases rapidly in one eye, after which the other eye quickly follows.

Chiesi Rare Diseases is also dedicated to investing in research and development initiatives that deliver value-added medical solutions.


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[1] Genetic and Rare Diseases Information Center. National Institutes of Health. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases. Last accessed: December 19, 2019.

[2] Nguengang Wakap S, et al. Eur J Hum Genet 2019.