Why Pharma cares more and more about Rare Diseases

Congress. The FDA. Patient Advocates. And Venture Philanthropy.

When it comes to rare diseases, medicines haven’t always been readily available. A rare disease is categorized as one that affects less than 200,000 Americans, but some rare diseases only impact the lives of a few hundred, or even a few dozen. However, with over 7,000 rare diseases known to doctors and scientists, more and more pharmaceutical companies are investing in treatments for rare diseases.

Since the 1983 Orphan Drug Act made it easier for companies with rare disease treatments to be reviewed and approved by the FDA, 220 medicines have been approved, almost half of them in the last 10 years.

Let’s take hereditary angioedema (HAE) for example.  Today, there are 5 FDA approved therapies for treatment. HAE patients are now able to work with their healthcare professionals to chose an HAE treatment plan tailored to meet their unique needs. Less than a decade ago however, anabolic steroids were prescribed to HAE patients- of all ages. Thanks to research and development and the FDA’s approval of more therapies, The Hereditary Angioedema Association reports anabolic steroids have since proved to be “not well-tolerated by many women, directly linked to liver toxicity and cause an increase in cholesterol levels” and that “these drugs should not be used to treat children.”

But why? Why is Pharma is Focusing Time and Money on Rare Diseases?

Patients. People. Advocates.

Patient advocates have been critical in publicizing the rare disease movement.  They’ve been talking to their doctors, and health care providers, raising awareness within their communities and encouraging others to join the movement.  They’ve been criticizing drug costs and fighting insurance companies. They’ve been doing their own research and fundraising, telling their stories, and sharing their experiences.  They’ve been connecting with each other, banding together and making their voices be heard.

The venture capitalists, philanthropists, CEO’s, and drug companies heard them loud and clear and began to join forces. So began the rare disease movement.

Much of the forward motion in developing rare disease treatments and making them available have come through what is known as “venture philanthropy”, pioneered by the Cystic Fibrosis Foundation, which funded significant portions of research in four treatments that would help those affected by cystic fibrosis.

With the rise of social media, other rare disease organizations have taken to the Internet to raise donations as well as spreading awareness of the conditions to a wider audience. This was best seen with 2014’s ALS Ice Bucket Challenge, which raised $115 million for the ALS Association.

Looking to the future, pharmaceutical companies, charitable organizations, and patients are excited about the rare disease treatments to come, and what further developments are in store making care and treatment even easier.