Rare diseases and orphan drugs – from research to marketing authorization

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Orphan drugs are medicinal products indicated for the treatment, diagnosis, and prevention of rare diseases. Currently, 6 % to 8 % of people in the world have some rare disease. So, the need for medicinal products that will provide hope and a chance for the treatment of affected patients, is immense.

Research and development of a new medicinal product is a long process. It includes isolation of active substance, pharmacological and toxicological testing as well as pre-clinical and clinical trials. Also, before placing the orphan medicinal product on the market, it is necessary to obtain marketing authorization.

In the last century, there were only a few medicinal products for the treatment of rare diseases. However, things took another turn in 1999 with adoption of EU Regulation on orphan medicinal products. Since then, the number of orphan drugs on the market has increased, as EU Regulation offers incentives to their sponsors. According to EMA, from the period of 2000-2020, there were 3678 applications for orphan designation. 2397 of them have obtained the positive opinion of Committee for Orphan Medicinal Products, and 2382 medicinal products have met the criteria for EC Designations (Table 1).

Applications for orphan medicinal product designation
Table 1. Applications for orphan medicinal product designation

Granting orphan designation

Firstly, before applying for a marketing authorization, the medicinal product indicated for treatment of rare diseases must receive orphan status. Then, EMA’s Committee for Orphan Medicinal Product (COMP) assess the application for orphan designation. After the evaluation of application, the opinion is sent to the European Commission which is in charge of granting orphan designation.

According to EMA, medicinal product must fulfill several criteria to obtain orphan status:

  • Use of medicinal product in the treatment, prevention or diagnosis of life-threatening or chronic disease.
  • The prevalence of the condition in the EU must not be more than 5 in 10 000 or it must be unlikely that marketing of the medicinal product would generate sufficient returns to justify the investment needed for its development.  
  • Patients having a rare disease must have significant benefits from the medicinal product.

Marketing authorization stage

After the medicinal product has received the orphan status, sponsor submits the application for the marketing authorization through a centralized procedure. Then EMA’s Committee for Medicinal Products for Human Use (CHMP) assess the application for a marketing authorization. The assessment is afterwards sent to the European Commission (EC) which makes the final decision on granting the marketing authorization.

In certain situations, conditional marketing authorization is possible. It means that designated orphan drugs administration to patients may be possible under compassionate use. This is a treatment option that allows the use of an unauthorized medicinal product outside a clinical study.

Considering the use of orphan drugs in a small number of patients, it is unprofitable to the pharmaceutical industry to design them. Consequently, there is small interest in this area of research. To motivate the sponsor to develop and invest in medicinal products for rare diseases, EMA offers them benefits such as:

  • marketing exclusivity (grants that other medicinal product will not be granted MA for the same indication, during the period of 10 years)
  • fee reductions and protocol assistance.

More than a half of orphan drugs approved are indicated for peadiatric use. For orphan medicinal products with peadiatric investigational plan and results of these studies presented in product information, EMA grants additional 2 years of marketing exclusivity.

How are orphan medicinal products a global topic

The number of described rare diseases is constantly increasing. To encourage research in the treatment of rare diseases, EMA collaborates with the US Food and Drug Administration (FDA) and the Japanese Ministry for Health, Labour and Welfare (MHLW) for issues concerning orphan designation. Hopefully, there will be more interest and funds for finance of orphan medicinal products research, in order to increase the number of orphan drugs on the market in the upcoming years.


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