Incentivizing Drug Development for Rare Diseases

Today is the last day of February, which means that it is Rare Disease Day.

The main objective of Rare Disease Day is to raise aware of rare diseases and their impact on patients’ lives, among among the general public, policy makers, public authorities, industry representatives, researchers, health professionals, and anyone with a genuine interest in rare diseases. 

The regulatory landscape dictates drug development

One problem facing companies developing therapies for rare diseases, is that if a developed drug can “only” help a few hundred people, it makes it difficult to recover the development costs, without charging an unreasonable amount of money.

Therefore, the right incentives need to be in place to entice pharma companies to invest in developing therapies for rare diseases. This can be achieved through introducing tax deduction benefits, reduced regulatory fees, or other incentives.

The tropical disease priority review voucher

One example of how incentives can encourage drug development in certain areas is the “tropical disease priority review voucher” scheme. Introduced by the FDA in 2007, this program awards priority review vouchers to pharmaceutical companies for developing neglected tropical diseases, i.e. diseases that exist in tropical and subtropical conditions, often in populations living in poverty, without adequate sanitation and in close contact with infectious vectors. Sadly, as neglected tropical diseases generally affect the world’s poor, they don’t receive as much attention as other diseases.

If granted a voucher, the recipient can expedite the regulatory review process for their next drug. As expected, development programs for voucher-eligible tropical diseases have increased following the introduction of the priority review voucher scheme (although it is difficult to fully attribute this increase to the priority review voucher program).

Program extended to rare pediatric diseases

In 2012, the program was expanded to include rare pediatric diseases, which is great news for more people than you might expect. Taken together, rare disease are not that rare.

It has been estimated that:

• 80% of people with a rare disease has one of 350 rare diseases
• 25-30 million Americans are living with a rare disease
• 50-75% of rare diseases begin in childhood

The program was a welcome addition to the existing Orphan Drug Act, which was issued in 1983 to encourage the development of drugs for rare diseases.

At the 2018 BIO-Europe conference, Arndt Rolfs, founder and CEO of CENTOGENE, a rare disease company, highlighted different aspects that need to be addressed: 

Awareness: raising awareness is important for bridging the gaps in coordinating the support services that can be of aid, and aid diagnosis - physicians may have never encountered the diseases before

Biochemistry: understanding therapeutic targets, and drug metabolism

Diagnostics: the length of time from symptom onset to an accurate diagnosis is approximately 4.8 years

Exclusivity: delaying the approval of competitor drugs increases the reward for the company that was first to develop the therapy

Financial: incentives are needed

Beyond the laws, incentives, and statistics, we must not lose touch with those who may feel isolated from living with a rare disease.

First-hand stories from 2019

This year’s international campaign highlights three testimonial videos that tell the stories of Filip, Karlo and Lorena, as they share their experience of living with a rare disease.

1) Ambitious and talented Filip from Romania loves karate, tennis, chess and skiing

2) Karlo, Croatia. “Climbing has had a very positive effect on my life”

3) Lorena lives in Croatia, with Phelan-McDermid syndrome, and is largely supported by her 16-year old brother, Victor, who adores her: “What I admire most about Lorena is that she is always happy, she’s always cheerful”

Show Your Rare!

The zebra is the official symbol of rare diseases in the United States, as explained by the US National Organization for Rare Disorders:

The zebra is "noted for its black and white stripes, which are central to its uniqueness. Everyone has his/her own stripes, those characteristics that make each individual distinct. While each of the more than 7,000 rare diseases are unique, there are many commonalities that unite the rare disease community."

#ShowYourRare is the interactive social media campaign where you can show solidarity in rare disease awareness and education, and Show Your Stripes for rare diseases as imaginatively as possible.