28 February 2013 - Rare Disease Day: 'Rare disorders without borders'

News 27/02/2013

Rare Disease DayThe European Medicines Agency supports Rare Disease Day, which is taking place on Thursday 28 February.

Rare Disease Day is held every year on the last day of February. Started in 2008, it seeks to raise awareness of rare diseases, and to improve access to treatment and medical representation for individuals with rare diseases and their families. It is coordinated by the European Organisation for Rare Diseases (EURORDIS).

This year, the theme of Rare Disease Day is 'rare disorders without borders'. The goal is to emphasise the need to work together and share knowledge and resources to better understand and treat the over 6,000 different rare diseases identified to date.

Role of the Agency

About 30 million people living in the European Union (EU) suffer from a rare disease. The EU offers incentives to companies developing 'orphan' medicines for conditions affecting not more than 5 in 10,000 people. These include reduced fees for marketing-authorisation applications, scientific advice (protocol assistance) and protection from market competition once the medicine is authorised. These incentives aim to bring more medicines for rare diseases to the European market.

The Agency plays a central role in the development and authorisation of medicines for rare diseases: the European Commission grants orphan designation to medicines on the recommendation of the Agency's Committee for Orphan Medicinal Products (COMP), and 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.

To date, the European Commission has granted more than 1,000 orphan designations and authorised 69 orphan medicines.

The Agency offers advice on development of rare diseases through protocol assistance, a type of scientific advice specifically for companies developing orphan medicines. Following the advice increases the chances of an applicant obtaining a marketing authorisation.

The Agency works with organisations representing patients with rare diseases through EURORDIS.

International collaboration

The COMP works closely with international partners on the designation and assessment of orphan medicines. It is committed to encouraging the development of medicines for rare diseases as part of a global effort.

The Committee is collaborating with the United States Food and Drug Administration (FDA), allowing applications for orphan designations to be submitted in parallel to the two agencies. The two authorities have also developed common procedures for submitting annual reports on the status of development of designated orphan medicines. Based on the success of this collaboration, which led to 62% of applications submitted in parallel in the EU and the FDA in 2012, last year the COMP began to collaborate with the Japanese regulatory authorities. A dialogue with Health Canada has been established and a closer collaboration with this country is anticipated in 2013.

The Agency has started working closely with European Network for Health Technology Assessment (EUnetHTA), an organisation that focuses on scientific cooperation in health technology assessment (HTA) in Europe. With respect to orphan medicines, the Agency is working with EUnetHTA towards a better understanding on orphan designation, marketing authorisation of orphan medicines and national competent authorities' initiatives on availability of designated orphan medicines.

Support to development

The Agency is currently investigating and analysing, through surveys of pharmaceutical companies, how orphan-designated medicines are being developed and what the major hurdles for drug development for rare diseases are.

The aim of this initiative is to propose actions to stimulate medicine development in areas of unmet medical need, neglected diseases and rare diseases, and address public-health needs. In this area, the Agency is collaborating with international organisations on medicine development such as the International Rare Diseases Research Consortium (IRDiRC).

2012: Orphan medicines in numbers

  • 197 applications for orphan designation received;
  • 148 orphan designations granted;
  • 10 marketing authorisations for new orphan medicines granted.

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