The European Union (EU) defines a disease as rare if it affects no more than 5 in 10,000 people1 in the EU. Up to 8,0001 rare diseases exist worldwide. 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. Around 80%1 of rare diseases have genetic origins or are in part due to genetic damage, and they are seldom curable.
Chiesi are currently undertaking research to develop new technologies designed for rare diseases. These include stem cell therapy and enzyme replacement therapy.
Stem cell therapy, also known as regenerative medicine, promotes the body's own repair response to regenerate diseased, dysfunctional or injured tissue. This technique involves collecting cells from a patient in the form of a small biopsy and then processing these cells in a specialised laboratory to develop a product that can be put back into the same patient to repair the affected tissue.
Enzyme replacement therapy refers to the treatment of enzyme deficiencies using manufactured enzyme preparations to replace the body's own naturally-occurring enzyme that is missing or defective. These therapies are usually given by regular intravenous infusion. The diseases treated are generally rare genetic disorders that affect children and young adults.
1. http://www.raredisease.org.uk/what-is-a-rare-disease/ [Accessed April 2018]