Rare Disease Day 2014 – twelve new orphan medicines available to patients over the past year

News 25/02/2014

Rare disease day

Update - EMA's Executive Director Guido Rasi together with Paola Testori Coggi from the European Commission and Luca Pani from AIFA receive European Rare Disease Leadership Award 2014*

Over the past twelve months, a total of 12 medicines for the treatment of rare diseases were recommended for marketing authorisation by the European Medicines Agency's (EMA) Committee for Medicinal Products for Human Use (CHMP).

They include medicines for the treatment of rare cancers (3), multidrug resistant tuberculosis (3) and pulmonary arterial hypertension (2).

About 30 million people living in the European Union (EU) suffer from a rare disease, which is a condition that does not affect more than 5 in 10,000 people.

The Agency plays an important role in the development and authorisation of medicines for rare diseases, known as orphan medicines. Its Committee for Orphan Medicinal Products (COMP) issues recommendations to grant orphan designation to medicines, and marketing-authorisation applications for designated orphan medicines are centrally assessed at European level, rather than in each Member State separately.

To date, following recommendations of the COMP, the European Commission has granted more than 1,000 orphan designations and there has been a year-on-year increase in the number of marketing-authorisation recommendations for medicines for rare diseases over the last few years (11 in 2013, 8 in 2012 and 4 in 2011).

In the EU, companies that have been granted an orphan designation for their medicine benefit from a number of incentives, including reduced fees for marketing-authorisation applications, scientific advice (protocol assistance) and paediatric investigation plans, as well as protection from market competition once the medicine is authorised through a 10-year market-exclusivity period. These incentives aim to bring more medicines for rare diseases to the European market.

The Agency also offers further incentives to micro, small or medium-sized enterprises (SMEs) developing orphan medicines. SMEs are very active in the area of rare diseases. A recent study conducted by staff members of the EMA and published in an article in Nature Reviews Drug Discovery showed that between 2010 and 2012, 61% of the medicines with an orphan designation recommended for marketing authorisation in the European Union originated from SMEs. The Agency encourages SMEs developing orphan medicines to register in order to have access to these incentives.

International collaboration

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

The EMA and the United States Food and Drug Administration (FDA) started working together in 2008 to encourage applications for orphan designation to be submitted to the two agencies in parallel. This programme was extended to the Japanese regulatory authorities (the Japanese MHLW and PMDA) in 2012.

The programme has been very successful so far. Half of all applications for orphan designation were submitted in parallel to other regulators in 2013, and a similar trend is expected in 2014.

The parallel submission process helps companies to rationalise the development of orphan medicines by facilitating access to scientific advice from the three regulatory authorities, which can take place in parallel at the sponsor's request.

In March 2014, the EMA, the FDA and the Japanese regulatory authorities will organise a joint workshop at the EMA headquarters to provide comprehensive information on the programmes available in the three territories to orphan medicines developers. The workshop will offer participants the opportunity to present a draft application for orphan designation and discuss issues with the three agencies. The plenary session will be publicly broadcasted live on the EMA website, and the recording and presentation slides will be made available afterwards.

About Rare Disease Day

The EMA supports Rare Disease Day, which takes place on Friday 28 February 2014.

Rare Disease Day is held every year on the last day of February. Launched 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 care. The goal is to encourage everyone in the rare disease community to join together for better care.

European Rare Disease Leadership Award

The EMA is proud to announce that EURORDIS has awarded this year's European Rare Disease Leadership Award jointly to Guido Rasi, Executive Director of the EMA, along with Paola Testori Coggi, Director General of the Health and Consumers Directorate General at the European Commission, and Luca Pani, Director General of the Italian Medicines Agency (AIFA).

The EURORDIS Awards recognise the commitment and achievements of patients' organisations, volunteers, companies, scientists, media, civil servants and policy makers who have contributed to reducing the impact of rare diseases on people's lives. “The development and approval of rare disease therapies and the access to medicines through your innovative approaches have a substantial impact now and will continue to do so in the future for the rare disease community,” noted the EURORDIS Awards Jury in its final decision.

When accepting the award on behalf of all the staff members of the EMA, Guido Rasi acknowledged the successes of the European orphan regulation that have led to the steady increase in the number of new medicines available to patients with rare diseases year-on-year. “What made a real difference was the involvement of patients in the evaluation of medicines, added Guido Rasi. The European orphan regulation was the first piece of legislation to introduce patients' participation in the Agency's scientific committees. The turning point was when the first patients' representative was appointed as a member of the Committee for Orphan Medicines. It was your work and your participation that showed how you enrich and add value to the scientific decision-making process. This has set a new standard for regulators and decision-makers.”

*This news item was updated on 26 February 2014.

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