Reinvigorating the fight against rare diseases

The United States has a long tradition of rising to the occasion to combat global public health crises. Just last month President Obama received accolades for launching a “moonshot” against cancer, which claims the lives of more than a half a million Americans each year. And policy makers on both sides of the aisle are calling for emergency funding to advance research into diagnostics, vaccines and therapies to combat Zika virus, which is reaching epidemic proportions around the world, and causing severe birth defects and developmental disabilities in children born to pregnant women infected with the virus.

We should also rise to the challenge posed by another growing public health challenge worthy of our urgent attention and investment: combating the nearly 7,000 rare diseases and disorders that directly affect 30 million people, most of them children.

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This week, more than 70 countries will observe Feb. 29 as World Rare Disease Day to bring greater attention to the fact that rare diseases strike families in heartbreaking ways: an average patient will see 8 physicians, be misdiagnosed 3 times, and endure a 7-plus year wait before receiving a correct diagnosis.

As a patient grows sicker, families become amateur scientists, scouring the internet for research papers, support groups, an expert somewhere in the world who can provide any insights. For the luckiest of patients, advances in genomic sequencing are making it increasingly possible to pinpoint the exact mutation that’s causing the disease, but even so, this offers little comfort: 95 percent of rare diseases have no FDA-approved therapy. And so, approximately 30 percent of children with a rare disease do not live to see their fifth birthday.

We must do better. And, we can.

In 1983, Congress passed the Orphan Drug Act, which provided drug makers added incentives to invest in research to develop therapies for conditions affecting very small populations. It worked. Since enactment of the Orphan Drug Act, innovators in California and across the United States have developed therapies for cystic fibrosis, Pompe disease and other rare conditions. Today, more than 520 treatments have been approved for 289 rare diseases, and hundreds more are in the pipeline.

But that’s just a drop in the bucket. It’s worth repeating that there are thousands of conditions with no treatments at all. Even when therapies are available, they are not always accessible due to insurance coverage and access issues, such as limited provider networks and specialty tiers, which create financial barriers and delay treatment.

Congress should be commended for recently demonstrating a clear intention to take action against rare diseases and disorders. Last summer, as a result of the bipartisan leadership and vision of Energy and Commerce Committee Chairman Fred Upton (R-Mich.) and Rep. Diana DeGette (D-Colo.), the House of Representatives overwhelmingly passed the 21st Century Cures Act, including several provisions to accelerate new therapies for rare diseases and ease the burden on families. Specifically, a provision based on the Orphan Product Extensions Now (OPEN) Accelerating Cures & Treatments Act will encourage biopharmaceutical companies to repurpose existing drugs to tackle rare conditions.

Further, an extension of the rare pediatric disease priority review voucher program will provide an important incentive to develop treatments for rare pediatric disorders. The Senate HELP Committee also commenced work on a similar "innovation initiative" and last month, as part of this effort, passed out of committee the Advancing Targeted Therapies for Rare Diseases Act, to streamline the regulatory path for new drugs that treat rare diseases.  Advancing these efforts is critical for incentivizing and accelerating innovation in new treatments and cures for rare diseases.

Medical researchers and innovators across California’s life sciences community are leading the way in bringing new therapies to patients and indeed have had a laudable and remarkable history of addressing unmet medical needs, enhancing and saving millions of lives. We’ve seen it with diabetes, cancer, heart disease, HIV/AIDS and many other conditions. Rare diseases pose unique challenges, but with ongoing advances in genomic medicine, and improved and expanded public-private partnerships, we have never been in a better position to find solutions.

The burst of therapies that came out of the Orphan Drug Act show what we can achieve with the right combination of innovative science and political will. As a nation, we need to do more for rare disease patients and their families. Investment in medical research and innovation holds the potential to develop therapies for thousands of untreatable conditions. It’s a steep hill, but one we must climb.

Carey is vice president of federal government relations and alliance development at California Life Sciences Association (CLSA). Jenkins is executive director of the EveryLife Foundation for Rare Diseases, dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy.

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