Since its creation in 2008, Rare Disease Day has played a key role in building an international rare disease community working towards equality in terms of social opportunities, healthcare and access to diagnosis and therapies for people living with rare diseases.
Rare Disease Day, the rarest day of the year, is organised every year on 28 February (or 29 in leap years).
What is a rare disease?
A disease is said to be 'rare' if it affects a limited number of people (1 in 2,000).
Rare diseases in brief:
- Between 5,000 and 8,000 rare diseases are known to date, affecting between 6 and 8% of the world's population.
- Half of all rare diseases affect children under 5 years of age and are responsible for 10% of deaths between one and five years of age.
- 80% of rare diseases are of genetic origin, often severe, chronic, progressive and disabling for those affected.
- Clinical signs vary not only from one disease to another but also from one patient to another with the same disease.
- On average, it takes more than four years to receive a proper diagnosis.
Rare diseases are therefore a major public health issue. An adapted organisation of care is therefore necessary.
Rare or orphan disease?
The term 'orphan disease' is used to describe a rare condition for which there is no effective treatment.
A drug is designated as 'orphan' when it is intended for the treatment of a rare disease. Not all drugs used to treat rare diseases are orphan drugs. On the other hand, a drug with an 'orphan' indication may have other 'non-orphan' indications.
The development of drugs for a small number of patients does not allow the recovery of the invested capital in its research. Thus, pharmaceutical companies are reluctant to develop these drugs under normal market conditions.
Nevertheless, patients suffering from rare diseases should be able to benefit from the same quality of treatment as others.
Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products facilitated access to the market for medicinal products for rare diseases and introduced a series of provisions to encourage the development and marketing of orphan medicinal products.
Applicants who obtain orphan designation benefit from assistance with protocol development, scientific advice specific to designated orphan drugs and 10 years of market exclusivity once the drug is on the market. Fee reductions may also be available depending on the status of the applicant and the type of service required.
The European Medicines Agency (EMA), through its Committee for Orphan Medicinal Products (COMP), is responsible for examining applications for orphan drug designation submitted by applicants. The COMP's opinion is then forwarded to the European Commission, which issues the final decision.
To qualify for orphan designation, a medicine must meet a number of criteria:
- It must be intended for the treatment, prevention or diagnosis of a life-threatening or chronically debilitating disease;
- The prevalence of the disease in the EU must be no more than 5 in 10,000 or it must be unlikely that the marketing of the medicinal product will generate sufficient revenue to justify the investment required for its development;
- No satisfactory method of diagnosis, prevention or treatment of the condition concerned can be authorised, or, if such a method exists, the medicinal product must provide a significant benefit to those affected by the disease.
A medicinal product may be designated as an orphan medicinal product at any stage of its development. Orphan drug designation is not a marketing authorisation, it simply indicates that the drug looks promising.
Applications for marketing authorisation for orphan medicinal products must be submitted to the EMA for evaluation under the centralised procedure.
Under certain conditions, orphan medicinal products may be available to the patient before a marketing authorisation is granted, for example as part of a compassionate use programme or clinical trial.
Progress has been made in understanding the diagnosis, treatment and prevention of rare diseases. However, there is still a long way to go as most of these diseases have no cure.
Through Rare Disease Day, everyone can participate in raising awareness and taking action for people living with rare diseases.
- Inventory, classification and encyclopaedia of rare diseases, with associated genes
- Directory of ongoing research projects, clinical trials, registries and biobanks
- Directory of patient organisations and services
- Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products