Rare Diseases Day 2020: The Importance of Orphan Drugs in Combating Rare Diseases

Rare Diseases Day

An Overview of Rare Diseases:

On February 29th, 2020 the world will observe Rare Diseases Day coordinated by the European Organisation for Rare Diseases (EURODIS). Now in its 13th year, this special day aims to spread awareness of rare diseases and the patients whose lives are impacted by them. But what exactly is a rare disease and what role do orphan drugs play in treating them?

What is a Rare Disease?

The exact definition of a rare disease can vary per region, however in Europe it is defined as being a condition which affects less than 5 in 100,000 people. To put this into perspective, these conditions can affect 30 million European Union (EU) citizens. There are over 6,000 different diseases/disorders that are classified as being rare and the number of people affected by each condition can vary hugely with some diseases affecting less than 1 in 1,000,000 people. Some of the main characteristics of a rare disease are as follows:

  • Often chronic, progressive, degenerative and life-threatening
  • No existing cure
  • High number affecting children (75%)
  • 4 out of 5 rare diseases have a genetic origin

Patients and their families face many challenges due to the rarity of their conditions. Because of the small populations being affected by these diseases, there can be little scientific information available and limited, if any, options for treatment. This makes both diagnosis and medical intervention difficult, with the standard course of action often being to treat the symptoms of the disease rather than the cause of the condition itself as curative or disease-modifying options are not always available. 

What are Orphan Drugs?

Simply put, an orphan drug is a classification given to therapies that aim to treat rare diseases. The exact definition of an orphan drug in regulatory terms can vary slightly, however in order to receive this designation the European Medicines Agency (EMA) has criteria that must be met:

  • it must be intended for the treatment, prevention or diagnosis of a disease that is life-threatening or chronically debilitating;
  • 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 medicine would generate sufficient returns to justify the investment needed 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 medicine must be of significant benefit to those affected by the condition.

Once a medication has been granted an orphan drug designation, there are several ways in which the EMA can help companies to launch their medicine. These include providing clinical protocol assistance, access to the centralised authorisation procedure, extended market exclusivity and licensing/submission fee reductions. While the EMA itself does not offer research grants to orphan drug sponsors, there are alternative sources available such as Horizon 2020 and E-Rare. 

These incentives and programs, along with ongoing research and development, have helped contribute to an increase in the number of orphan drugs reaching the market, with 20% of recommended approvals by the EMA from 2015-2019 being orphan drug products, compared to 12% from 2010-2014. With this increasing trend, coupled with ongoing scientific research, we hope to see more rare diseases being treated in the future.   

Orphan Drug Consulting remains committed to assisting innovative orphan drug companies in getting their medicines access to as many markets and patients as possible.



The information presented within this blog is for illustration purposes only and is not to be considered as professional advice.