It’s time to close the innovation gap on rare diseases
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This week, more than 300 rare disease patients and advocates will descend upon Washington to call on Congress and the new administration to take critical actions to close the innovation gap for the 95 percent of rare diseases that currently do not have one single FDA-approved therapy.

A rare disease affects fewer than 200,000 people in the United States. Yet, there are more than 7,000 such conditions affecting 30 million people, more than half of whom are children. Around a third of these children do not live beyond age five.  

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The average rare disease patient sees eight physicians, is misdiagnosed three times and typically endures a seven-plus year delay before receiving a correct diagnosis. Even after being properly diagnosed, treatment options are limited or nonexistent. In 2016, FDA approved eight novel new medicines for rare diseases. To date, there are currently 595 FDA-approved drugs for rare diseases. Still, only five percent of all known rare diseases have any FDA-approved therapy.

There are a number of extraordinary challenges facing researchers, drugmakers, and regulators, all of which are contributing to the innovation gap in therapies for rare diseases. The chilling fact remains that thousands of conditions, and millions of patients, have no treatment options at all.

World Rare Disease Day, Feb. 28, is an opportunity to acknowledge the progress we have made, recognize the dire challenges we are facing, and commit to making the necessary policy changes that will bring hope to rare disease patients and families and ultimately save lives.

The 1983 Orphan Drug Act is a model for bipartisan compromise and sound healthcare policy. The law provides incentives for drug makers to pursue rare disease therapies and has been critical for incentivizing drugmakers to invest in research and development for therapies that are now combatting deadly rare conditions, like cystic fibrosis, hemophilia, rare pediatric cancers, and lysosomal storage disorders.

Golden State companies are at the forefront of rare disease research and therapeutic innovation. Today, California has more than 3,000 life sciences companies directly employing more than 287,000 people.

The 21st Century Cures Act, signed into law last year, takes critical next steps toward truly accelerating biomedical innovation. The law promises to increase NIH funding by $4.8 billion over ten years, provide an additional $500 million for FDA, and includes several important provisions to accelerate new therapies for rare diseases. The law passed both chambers with overwhelming bipartisan support.

But much work remains. The increased NIH funding is only guaranteed for the first year; Congress must reapprove new money each subsequent year. We call on Congress to ensure this funding is available to support research for new therapies for rare diseases, cancer, Alzheimer’s and other conditions.

Despite the additional promised funding for FDA, the agency remains woefully underfunded. FDA relies heavily on private monies paid by industry, called “user fees,” to support the agency’s product review activities. This user fee program expires at the end of this fiscal year, and must be renewed quickly.

We call on Congress to ensure FDA has adequate funding – through both congressional appropriations, and industry-paid user fees – so the agency can meet its congressionally-mandated product review responsibilities and ensure sustained biomedical investment, innovation and improved patient care. The agency also needs new tools to encourage innovation in rare disease therapies, including exploring new incentives for repurposing existing drugs to tackle rare conditions.

Further, affordable and equitable access to rare disease therapies is paramount. Limited provider networks, restricted access policies, high deductibles, and pricey specialty tiers can create insurmountable financial barriers for patients and unnecessarily delay appropriate treatment that their doctor has prescribed. As our healthcare systems undergo landmark reforms, we call on Congress to ensure patients have meaningful access to affordable healthcare, including innovative new therapies.

Fighting rare diseases is a challenge, but one we can solve together. Life sciences companies, the insurance industry, patient and research groups, both parties in Congress, the President and other stakeholders must join forces to find solutions – both through protecting access to patient care and fostering medical innovation. We have the tools at our disposal; let’s find the courage to use them.

Jennifer Nieto Carey is Vice President of Federal Government Relations and Alliance Development at California Life Sciences Association (CLSA), a nonprofit public policy advocacy and business solutions organization representing California’s leading biotechnology, pharmaceutical, medical device, and diagnostics companies, research universities and institutes, investors and service providers. Julia Jenkins is Executive Director of the EveryLife Foundation for Rare Diseases, a nonprofit organization dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy.


The views expressed by this author are their own and are not the views of The Hill.