Rare diseases

15.10.2018

Question for oral answer O-000118/2018
to the Commission
Rule 128
Mairead McGuinness, Rory Palmer, Jadwiga Wiśniewska, Gesine Meissner, Tilly Metz, Estefanía Torres Martínez, Piernicola Pedicini, on behalf of the Committee on the Environment, Public Health and Food Safety

In the European Union, a disease is considered rare when it affects no more than one person in 2 000. While individual rare diseases are all characterised by their low prevalence, they affect all biological systems. There are between 6 000 and 8 000 different rare diseases that in total affect an estimated 30 million people in the European Union.

A limited but increasing number of so-called orphan drugs reach patients. However, the majority of rare diseases still lack any effective treatment. The field of rare diseases suffers from insufficient medical and scientific knowledge. One specific group of rare diseases is characterised by its quick progression and extremely debilitating effects, including, if left untreated, rapid death. The medicines currently available for these diseases only slow the progression of the disease. Early diagnosis is therefore vital, as any delays between the first symptoms and actual diagnosis will impact negatively upon that patient’s life expectancy. Research is also needed for effective treatment. In addition, patient access to medicines for rare diseases varies largely across Europe.

In light of the above:

1. What measures has the Commission taken so far to ensure accurate and timely diagnosis of rare diseases, as well as access to affordable medicines required to treat them, across the EU? How does the Commission promote research in the field of rare diseases and into the development of new or improved methods for early diagnosis? How does it intend to further these efforts and achieve measurable improved outcomes for rare disease patients in all EU Member States?

2. How does the Commission intend to guarantee access to information and to medicines and medical treatment for rare disease patients throughout the EU? How does the Commission promote better coordination and learning across Member States, given that access to early and accurate diagnosis can have a significant impact on the patient’s prognosis and quality of life?

3. What are the Commission’s plans to ensure sustainable funding of patient organisations supporting the European Reference Networks on rare diseases, for example by means of the European Joint Programme on Rare Diseases?