More medicines becoming available for patients who previously had no treatment options


The European Medicines Agency (EMA) supports Rare Disease Day 2015, taking place on Saturday 28 February.

A rare disease affects not more than 5 in 10,000 people; however, altogether about 30 million people suffer from these diseases in the European Union (EU).

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

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 patients.

Since the entry into force of the EU orphan regulation in 2000, more than 100 medicines for rare disease have been brought to the EU market.

A number of medicines that were recommended for marketing authorisation over the past year provide first ever therapies for patients with no treatment options. Among them are:

  • the first medicine for a sub-group of patients with Duchenne muscular dystrophy (Translarna);
  • the first treatment for erythropoietic protoporphyria, a rare genetic disease which causes intolerance to light (Scenesse);
  • the first treatment for Morquio A syndrome, a very rare and life threatening disease (Vimizim);
  • the first medicine for the treatment of multicentric Castleman's disease, a chronically debilitating and life threatening condition (Sylvant).

2014 also saw the first recommendation of a therapy based on stem cells, Holoclar, for the treatment for limbal stem-cell deficiency, a rare eye condition that can result in blindness.

A number of medicines have been recommended for the treatment of rare cancers, including Gazyvaro, Imbruvica and Zydelig. Targeted treatments for melanoma and breast-cancer patients whose cancer has a specific mutation (Mekinist and Lynparza, respectively) were also recommended for approval in 2014.

EMA expects that 2015 will also bring more medicines to patients with a rare disease. The Agency started the evaluation of 21 applications for the marketing authorisation for orphan designated medicines in 2014, compared to 14 in 2013.

Involving patients

It is a priority for EMA to ensure that medicines brought to the market are meaningful to patients and respond to their needs. This is why patients are involved in a number of EMA activities so that their views, real-life experience and preferences can be taken into account.

In 2014, a pilot project was launched to involve patients in the assessment of the benefits and risks of a medicine during Committee for Medicinal Products for Human Use (CHMP) plenary meetings. The first medicine to be included in the pilot was Scenesse (afamelanotide), a medicine for the treatment of erythropoietic protoporphyria, a rare genetic blood disorder which causes intolerance to light. Patients with this disease shared their experiences of living with the condition and answered specific questions from the Committee. Their inputs were considered by the CHMP as part of its assessment of the medicine.

The COMP has had a patient representative as Vice-chair since its creation in 2000. Patient representatives are also increasingly involved in scientific-advice meetings with medicines developers so that they can bring their unique perspective on the clinical development plans. They are also involved as experts in the various scientific advisory groups, which provide specialised advice to the Agency's scientific committees on the benefit-risk evaluation of specific types of medicines or treatments.

About Rare Disease Day

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).

The Rare Disease Day 2015 theme 'living with a rare disease' recognises the millions of families, friends and carers whose daily lives are impacted by rare diseases. The 2015 slogan 'day-by-day, hand-in-hand' calls for solidarity as together patients, families, carers, patient organisations and healthcare professionals can participate in the improvement the lives of people living with a rare disease.

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