Many people with rare diseases struggle to find the right diagnosis and right treatment for years. The lack of awareness about these conditions make it much harder for them to get the right treatment. Rare Disease Day is all about raising awareness for rare diseases. And, this year, you can join these efforts too.

The first Rare Disease Day was founded in 2008 on February 29th, since then, the day has grown to incorporate numerous health organisations and regulatory agencies across the world, including events in 94 countries last year.

What is a rare disease?

Rare disease which is also referred to as an orphan disease, is any disorder that affects a small percentage of the population. Every country has its own definition based on the population it affects.

United States

In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people.

Europe

A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000.

Japan

In Japan, rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people.

Australia

Australia Therapeutic Goods Authority – TGA, describes rare diseases are a condition, syndrome or disorder that affects 1 in 10,000 people or less.

Russia

In Russia, a disease is considered to be orphan if there are not more than 10 cases per 100 000 population.

What is a rare disease day?

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision makers about rare diseases and their impact on patients lives. European Organisation for Rare Diseases established this day in 2008 

When is the rare disease day?

Rare Disease Day takes place on the last day of February each year. 29 February 2020 will be the thirteenth international Rare Disease Day.

Some facts about rare diseases

  • Over 300 million people living with one or more of over 7,000 identified rare diseases around the world which is about Rare diseases currently affect 3.5% – 5.9% of the worldwide population.
  • Approximately 72% of rare diseases are genetic and others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  • 70% of those genetic rare diseases start in childhood and this is because pediatric cancer is defined as a rare disease.
  • 80 percent of rare diseases are caused by a change or mutation in a person’s DNA (Genetic).
  • Still about 95 percent of rare diseases do not have FDA-approved treatments.

Significance of rare disease day

  • The long-term cause of the Rare Disease Day campaign was to achieve access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease.
  • When it started in 2008, events took place in just 18 countries, and in 2020, Rare Disease Day is being celebrated across multiple countries.

Market for rare diseases

  • There is a huge leap towards rare disease drug developments in pharma industries. Many leading pharma companies, start ups, and small to medium scale biopharma companies have already started working on orphan drugs.
  • Medicines for Rare diseases will see a significant growth from 2019 to 2025 in the market size.
  • Orphan drug market is expected to reach $169 Bn from $106 Bn and register a CAGR of 6.8% during the year 2016 -2022 according to a report.
  • North America had largest market share in orphan drugs in the year 2015 and continues to retain its share.
  • A rise in investment in the rare diseases treatment sector and introduction of new orphan drugs will boost the market growth in the coming years. 
  • Increase in orphan drug demand has been increased in the last several years, with increase in awareness on rare diseases.

Regulatory support for rare diseases drug development

Various government medical agencies are implementing initiatives in order to support and encourage drug developers to work upon developing rare diseases drugs, such as financial incentives, fast track approvals and regulatory benefits.

Credevo support for rare diseases

Credevo has been supportive of rare disease day since inception in creating awareness of research in rare diseases.

Some of the helpful articles, projects and services that have been a part of Credevo’s rare diseases support are as follows.

Global regulatory scenario


Rare Diseases: Regulatory Incentives for Development of Orphan Drugs – US & EU


Rare Diseases: Regulatory Incentives for Development of Orphan Drugs – Japan & Australia


Rare Diseases: Regulatory Incentives for Development of Orphan Drugs – Asia


Rare Diseases: Primary challenges in rare disease clinical trials and solution


Rare Diseases: Clinical Trials & Drug Development


Feasibility studies in rare diseases


Clinical trial feasibility: Glomerulonephritis


Clinical trial feasibility: Acute Myeloid Leukemia (AML)


Clinical trial feasibility: Epidermolysis Bullosa (EB)


Clinical trial feasibility: Amyotrophic Lateral Sclerosis (ALS)


Rare disease services: Clinical trial logistics


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References

  1. https://www.rarediseaseday.org/article/what-is-a-rare-disease
  2. https://en.wikipedia.org/wiki/Rare_Disease_Day
  3. https://williams-syndrome.org/rare-disease-day-2018
  4. https://www.wheelsforwishes.org/news/11-facts-about-rare-disease-day-2017/