A champion for equity in research and treatment access, Alexion Vice President for Corporate Affairs Tamar Thompson is not shy about speaking up on behalf of people living with rare diseases — and bringing her own personal experiences to bear. It’s a critical time for an advocate, as the rare disease research community faces significant policy challenges to the Orphan Drug Act, which directly influenced the development of rare disease treatments in the United States.
The Orphan Drug Act
40 years after its passage, the Orphan Drug Act remains the most significant legislative driver of research and treatment for rare diseases in the United States. By definition, the individual conditions under this umbrella are diagnosed in fewer than 200,000 people in the U.S, but collectively they affect the lives of 30 million patients, according to recent National Institutes of Health estimates.1, 2
With incentivized pathways for drug and treatment research, the ODA ushered in a new era of therapeutic development. Before 1983, only 38 orphan drugs were approved by the FDA. Since then, more than 550 medicines to treat rare diseases have been approved for over 1,100 indications.
Despite these advances, seeking treatment for a rare disease is still a Herculean lift for patients and caregivers alike. Accurate diagnosis often takes nearly 5 years, and only 5% of the 7,000 known diseases have treatment at all, according to Thompson, who spoke at a recent “STAT in D.C.: The Politics of Health Care” event in the nation’s capital. “The odyssey to that diagnosis involves multiple doctors, countless specialists, and unfortunately, several misdiagnoses along the way.”
Thompson finds a parallel in her own family’s path as they navigated her husband’s recent prostate cancer diagnosis. “The journey was very difficult. We didn’t get things that I thought he needed to have — I knew the genetic testing that was available for him that he should have had. We should have had options for testing to make sure that he had the right treatment options. And so when you’re thrown into the system in such a way, it’s easy to navigate the system [on a policy level] and say, ‘well, the patient’s needs…’
But when you’re the patient, or when you’re the patient navigator, it’s a completely different experience.”
For Thompson, advocating for her husband meant transferring him to an entirely new hospital system to ensure that he received the best-available treatment.
A focus on health equity
Adding to the challenges patients living with rare diseases face — many of whom don’t have the same option — are the structural inequities that have always existed in the U.S. healthcare system, but which have been brought into sharp focus in recent years. “I just remember how my grandmother was treated, and we just kind of accepted it,” Thompson said. “You see the difficulties that you go through, your family goes through. And for me, it wasn’t until I came to DC or — quite frankly — even got into life sciences — that I learned that that’s not okay.”
“And for those that are already in marginalized populations… they’re facing deep issues of inequity. Adding [a] rare disease diagnosis puts them in an even greater position of disadvantage.” It’s an awareness that’s sharpening Thompson’s vision as she works alongside patients and families facing these challenges.
“We must work with a sense of urgency to eliminate the barriers between patients and the care that they deserve and to ensure access and equity for all patients regardless of their race, background, socioeconomic status, or ZIP code.”
The solutions are clear. Dismantling societal barriers to research and treatment, providing equitable research funding, developing affordable pharmaceutical treatment options, and having honest conversations with patient communities are all necessary parts of the equation.4 Ensuring a representative population in clinical trials is particularly important, but a significant challenge, given the small number of patients with any one type of rare disease. That’s where regulatory flexibility in design and allowing a broad array of trial locations can enable researchers to have a more rigorous study, according to Alexion leaders.5
The Orphan Drug Act in 2023
As the Orphan Drug Act marks its 40th anniversary, Thompson reflected on how she and her organization are advocating for some of these practical steps, and the legislation’s lasting impact: “Companies like Alexion have been able to make tremendous progress in working side by side with the patient community and valued stakeholders in developing critical treatment options for rare diseases.
ODA considers the unique challenges involved with rare disease drug development, and clears pathways for companies like ours to help more rare disease patients live fuller and healthier lives. Other countries have even used ODA as a model for their own rare regulatory disease pathways.”
Shifting political tradewinds and debates about the balance of market viability and profitability are ongoing, but Thompson keeps her own personal North Star in sight by focusing instead on the patient population she serves: “It has been so rewarding. I am so grateful that I get the opportunity every day to get up and serve this community. These patients are just so wonderful. Their challenges are so significant and each time we meet with the patients, they’re so happy to have treatment options.
They’re just happy to be able to live their lives every day. And I’m just so grateful to be able to amplify their voices and message.”
More information about Alexion’s efforts to treat rare diseases and advance health equity is available at https://alexion.com/.
- National Institutes of Health. (n.d.). About GARD. Genetic and Rare Diseases Information Center. Retrieved March 16, 2023, from https://rarediseases.info.nih.gov/about
- Rare Diseases at FDA. (2022, December 13). FDA. Retrieved March 16, 2023, from https://www.fda.gov/patients/rare-diseases-fda
- National Organization for Rare Diseases (NORD). (2023, January 4). The Orphan Drug Act Turns 40: NORD Celebrates Its Impact on Rare Diseases. National Organization for Rare Disorders. Retrieved March 16, 2023, from https://rarediseases.org/the-orphan-drug-act-turns-40-nord-celebrates-its-impact-on-rare-diseases/
- Castillo, A. (2022, December 8). ‘All the tech in the world doesn’t solve this’: Rare disease experts push biopharma on equity. STAT News. Retrieved March 16, 2023, from https://www.statnews.com/2022/12/08/rare-disease-equity-clinical-trials/
- Dunoyer, M. (2023, February 20). Working Every Day for the Rare Disease Community. Alexion Pharmaceuticals, Inc. Retrieved April 4, 2023, from https://media.alexion.com/news-releases/news-release-details/working-every-day-rare-disease-community
- Cheung, R. Y., Cohen, J. C., & Illingworth, P. (2004). Orphan drug policies: implications for the United States, Canada, and developing countries. Health law journal, 12, 183–200.