Rare diseases are diseases that, according to the EU threshold, affect fewer than 1 in 2,000 people. When these illnesses are radical, chronic and difficult to treat, it can be agonising for patients to access the effective treatment. For Chiesi, innovative research into rare diseases is therefore of scientific and social importance.
We have approached two rare diseases using stem cell and gene therapy:
A (chemical) burn to the eye often leads to loss of sight. A cornea transplant can offer comfort, but not if there is also damage to the limbus, a small transitory zone between the conjunctiva and the cornea. As the limbus provides repair and renewal of the cells in the cornea, a shortage of limbal cells leads to loss of sight.
Lipoprotein lipase (LPL) is an enzyme that plays a role in the breakdown of fats. Patients that are unable to make LPL due to a genetic deficiency have a higher risk of frequent and severe pancreatic inflammation. Further long-term complications include diabetes and cardiovascular diseases.