Rare diseases are serious, potentially fatal or chronically debilitating conditions that are associated with low prevalence. The exact definition, however, differs between countries. In Europe, a disease is considered rare if it affects five or fewer people per 10,000 inhabitants.
There are thousands of rare diseases. So far, nearly 7,000 different rare diseases have been discovered and new conditions are regularly described in medical journals.
In developing an orphan drug to treat a rare disease, companies are faced with difficulties inherent in this type of medications. In addition to the heterogeneity of the diseases and limited knowledge available on them, it is also necessary to do clinical trials with small, disperse, fragmented samples of patients.
These circumstances mean that more investment is needed to develop any new treatment, and also make its clinical effectiveness highly uncertain.
Furthermore, in the European Union orphan drug policies are established by each member state, which means there are differences and inequalities in terms of access and pricing. All of this makes collaboration between biopharmaceutical companies and the government particularly important in this arena, as well as the active participation of patients’ associations.
Within this framework, Asebio works with nearly one hundred social and scientific organizations to promote a National Strategy on Rare Diseases that ensures:
- Quick, fair access to diagnosis and treatment for anyone affected, promoting a comprehensive care model in all Autonomous Communities
- Ongoing support for research into rare diseases, helping make the laboratories that do this work viable and sustainable
- Strengthening the social services available, especially for disabilities and dependence, and ensuring maximum coordination among healthcare, social, educational and employment services to make sure people affected by rare diseases get what they need