It’s not unusual for members of Congress to come to see their small, tight-knit staffs as a kind of second family. I was in my 10th year representing a suburban Philadelphia district in the U.S. House of Representatives when I received the shocking phone call that every family member dreads: Something was wrong with Stephanie.
Stephanie Fischer was my communications director. She was working in the Rayburn House Office Building when she started feeling unwell. As a co-worker drove her home, she began struggling to put words together in the right order. By noon, Stephanie was at home, lying down, unable to move her right side. Sensing something was very wrong, she used her left hand to email her co-worker, who hurried back over and rushed her to the hospital. It’s a good thing she did. At age 29, Stephanie had suffered a stroke.
Stephanie is one of 30 million Americans living with a rare disease. Individually, the 7,000 known rare diseases may be uncommon, but taken together, they afflict a staggering 1 in 10 Americans.
Like most rare diseases, AAS has no cure. Rather the quality of a patient’s life is determined by access to medication that can alleviate debilitating – even life-threatening – symptoms. Stephanie is taking an innovative blood thinner that requires only annual blood tests to monitor. This is a big improvement over an older, generic medicine she took for about 10 years after her stroke. The downside is that because the medicine is not FDA-approved for her particular condition, her insurance company will not pay for it. This is a grave reality for too many patients with rare diseases.
This year got off to a troubling start for the rare disease community. During the tax reform debate, the Orphan Drug Tax Credit – one of the most important provisions ever enacted to incentivize rare disease research – was almost killed in the effort to simplify the tax code. Only after a concerted effort among rare disease champions in the Senate was it saved. But the tax credit for rare disease clinical trial expenses was halved from 50 to 25 percent. This change will make it harder to raise the hundreds of millions of dollars required to develop a single drug to treat a disease with a small patient population.
Despite this setback, there is still reason for optimism because of what’s happening at the U.S. Food and Drug Administration. History has shown that the FDA’s role in rare disease drug development cannot be overstated. As a young member of the House Energy and Commerce Committee in 1997, I played a part in passing the FDA Modernization Act. For the first time, we established fast-track authority to help the agency speed rare-disease breakthroughs to patients. The past decade alone has brought a record 250 orphan drug approvals.
The FDA is modernizing once again. In the wake of the Orphan Drug Tax Credit setback, the agency will play an especially pivotal role in accelerating miracles to patients with rare diseases.
There are three reasons to believe that FDA Commissioner Scott Gottlieb and his team will rise to the occasion.
Busting the backlog on orphan designations:
Exciting scientific advances have led to a doubling of requests for orphan drug designations compared to five years earlier. Last year, the FDA cleared its entire backlog of hundreds of requests. Going forward, the agency has made key changes in order to respond to all requests for orphan designations in 90 days or less.
Getting creative with clinical trials:
Orphan drug development is especially challenging because of limited patient populations for required clinical trials. Rare diseases, by definition, impact fewer than 200,000 Americans – some impact hundreds or less. So the FDA is exploring the use of innovative clinical trial designs and alternative data sources. The agency recently announced plans to develop clinical trial networks for rare diseases to better understand individual patient experiences, symptom progression, and clinical outcomes. This “natural history” model will help reviewers boost orphan drug development.
Treating patients as partners:
The FDA is in the midst of a sea change in how it integrates the patient perspective in the drug review process. Rather than occasionally consulting patients on drug efficiency and effectiveness, the FDA is establishing an Office of Patient Affairs to coordinate patient engagement across the agency. The goal is to collect statistically meaningful patient experience data that will be used to inform crucial regulatory decisions about new treatments.
The FDA’s ongoing commitment to modernization and its refreshing focus on patient-centered drug development holds great promise for patients who are sick and their loved ones who are sick with worry.
Since her diagnosis, Stephanie Fischer has dedicated her life to this cause. She has brought her advocacy skills to bear at BIO, PhRMA and the EveryLife Foundation for Rare Diseases. As a patient advocate, she is focused on closing the innovation gap for the 95 percent of rare diseases that have no FDA-approved treatment.
Today, on global Rare Disease Day, she is on Capitol Hill to lobby for legislation that would incentivize biopharmaceutical companies to repurpose already approved therapies to treat rare diseases. She is joined by 380 rare disease advocates from across the country who are sharing their stories and conveying the need for innovation to improve their lives. It’s a cause every American should support, because none of us knows when our phone might ring.
Jim Greenwood, a former six-term member of Congress from Bucks County (Pa.), is the CEO of BIO, the world’s largest trade association representing the biotechnology industry.