What is Rare Disease Day?
Rare Disease Day is a patient-led globally coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Rare Disease Day was established by EURORDIS and 65+ national alliance patient organization partners in 2008. Rare Disease Day falls on the 28th of February each year or the 29th of February when it’s a leap year. Falling on the 29th of February is to symbolize a rare disease as it is the rarest day of the year.
What is a Rare Disease?
The European Union defines a rare disease if it affects fewer than 1 in 2,000 people within the general population. In Europe, over 30 million people are living with a rare disease.
Key facts on Rare Diseases
- There are 6,000+ identified rare diseases
- 300 million people in the world are living with a rare disease
- Rare diseases currently affect 5% of the worldwide population
- Collectively the number of people living with a rare disease is equivalent to the population of the world’s 3rd largest country
- 72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes or are rare cancers
- 70% of rare diseases start in childhood
- There are an estimated 200 rare cancers
- Equity for people living with rare disease is equitable access to diagnosis, treatment, health, social care, and opportunity.
What are Orphan Drugs?
The European Medicines Agency (EMA) defines an orphan drug as medicine for the diagnosis, prevention, or treatment of a life-threatening or chronically debilitating condition that affects no more than five in 10,000 people in the European Union or when the medicine is unable to generate a profit that would cover the costs of research and development.
Orphan Drugs are medicines used to treat rare diseases. The European Medicines Agency (EMA) states that for an Orphan Drug to gain Orphan Drug Designation status, the following criteria must be met:
- It must be intended for the treatment, prevention or diagnosis of a disease that is life-threatening or chronically debilitating.
- The condition must affect no more than 5 in 10,000 or it must be unable to make a profit to justify the investment needed for its development.
- No sufficient method of diagnosis, prevention or treatment of the condition can be previously available, or, if a method exists, the medicine must be a notable benefit to those affected by the condition.
The Orphan Drug Act
The Orphan Drug Act was created to entice pharmaceutical companies to create orphan drugs as typically they were deemed unprofitable because of such small patient populations. In 2000 the orphan drug act came into effect in the EU after being passed in the US in 1983. Within the Orphan Drug Act, the European Commission included incentives in the EU for medicines that were seeking orphan drug designations such as,
- Protocol Assistance
Protocol assistance is a type of scientific guidance provided by the European Commission exclusively for orphan drugs. This enables sponsors to obtain answers to their queries about the types of studies required to establish the medicine’s quality, advantages, and hazards, as well as information on the medicine’s considerable benefit.
2. Access to the centralized authorization procedure
In the European Union, all designated orphan drugs are evaluated for marketing authorization through the centralized authorization procedure. This enables companies to submit a single application to the European Medicines Agency, culminating in a single opinion and decision from the European Commission that is valid throughout the EU.
3. Ten years of market exclusivity
Once authorized, orphan drugs have a ten-year period of protection from market competition from medicines and indications that are similar.
Benefits of the Orphan Drug Act
The Orphan Drug Act has made a positive impact in the pharmaceutical industry for rare diseases. Since the year 2000, over 2,382 orphan designations have been issued by the European Commission, this has resulted in 190 authorized medicinal products to date.
Although there has been an immense support in research and innovation framework programs for rare diseases, there are still over 300 million people worldwide living with a rare disease with many not being able to access treatment. Rare Disease Day is to represent and raise awareness for a vulnerable population that needs urgent attention.
The information presented within this blog is for illustration purposes only and is not to be considered professional advice. Any information related to health contained within this article is not a substitute for appropriate medical advice from licensed healthcare professionals
Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen | Orphanet Journal of Rare Diseases | Full Text (biomedcentral.com)Leave a reply