Medicines for rare diseases

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The European Medicines Agency plays a central role in the development and authorisation of medicines for rare diseases. These medicines are termed ‘orphan medicines’ in the medical world.

About 30 million people living in the European Union (EU) suffer from a rare disease. Rare diseases are defined as life-threatening or chronically debilitating conditions that affect no more than 5 in 10,000 people in EU. This is equivalent to around 250,000 people or less for each disease.

Since the pharmaceutical industry has little interest, under normal market conditions, in developing and marketing medicines intended for small numbers of patients, the EU offers a range of incentives to encourage the development of these medicines.

Orphan designation

The Agency is responsible for reviewing applications from sponsors for the designation of medicines for rare diseases.

To benefit from the incentives, sponsors intending to develop an orphan medicine must submit an application to the Agency requesting 'orphan designation' for their medicine.

The application is evaluated by the Agency's Committee for Orphan Medicinal Products (COMP), which provides its opinion on whether or not the medicine qualifies as an orphan medicine for the treatment, prevention or diagnosis of a rare disease. If the COMP issues a positive opinion, the European Commission may then grant the medicine orphan status.

Sponsors of designated orphan medicines are eligible to benefit from the incentives offered, including:

  • assistance with development of the medicine;
  • reduced fees for marketing-authorisation applications;
  • protection from market competition once the medicine is authorised.

Designated orphan medicines are assessed centrally on a European level by the Agency's Committee for Medicinal Products for Human Use (CHMP), rather than in each Member State separately.

Working with partners

Because rare diseases are a global issue, the Agency works closely with its international partners on the designation and assessment of orphan medicines:

  • It works with the United States Food and Drug Administration (FDA), sharing information on orphan medicines under their confidentiality arrangement. The two authorities have also developed common procedures for applying for orphan designation and for submitting annual reports on the status of development of designated orphan medicines.
  • It collaborates with the Ministry for Health, Labour and Welfare (MHLW) in Japan on issues related to orphan medicines.

The Agency works with organisations representing patients with rare diseases through the the European Organisation for Rare Diseases (EURORDIS).

Rare diseases at a glance

  • Rare diseases are life-threatening or chronically debilitating conditions affecting no more than 5 in 10,000 people in the EU. Most of these people suffer from diseases affecting less than 1 in 100,000 people.
  • Between 5,000 and 8,000 distinct rare diseases exist, affecting between 6% and 8% of the population in total – in other words, between around 27 million and 36 million people in the EU.
  • On average, five new diseases are described every week in the medical literature.
  • Symptoms of some rare diseases may appear at birth or in childhood, including spinal muscular atrophy, lysosomal storage disorders, patent ductus arteriosus (PDA), familial adenomatous polyposis (FAP) and cystic fibrosis. More than half of rare diseases appear during adulthood, such as renal-cell carcinoma, glioma and acute myeloid leukaemia.
  • 80% of rare diseases have identified genetic origins, and affect between 3% and 4% of births. Other rare diseases are due to degenerative and proliferative causes.
  • Medical and scientific knowledge about rare diseases is lacking. The number of scientific publications about rare diseases continues to increase, particularly those identifying new syndromes. However, fewer than 1,000 diseases benefit from even minimal amounts of scientific knowledge. These tend to be the rare diseases that occur most frequently.
  • The EU’s Seventh Framework Programme for Research and Technological Development (FP7) ran between 2007 and 2013 boosting research into rare diseases. Its first phase focused on innovative and multidisciplinary projects investigating non-infectious, non-cancer rare diseases. This knowledge provides the basis for future development of new approaches to diagnose, treat and prevent rare diseases.

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