2018 is a big year for the rare disease community – NORD is celebrating its 35th anniversary. For the past 35 years, NORD has taken pride in being the rare disease community’s biggest advocate. Our policy, research and other efforts have played a significant role over the years, advocating for what matters most and making sure patients have a voice. In this special anniversary blog series, we are highlighting our decades of service to those impacted by rare diseases.
Throughout the year, we’ll be telling our story… and we hope you will consider telling yours. Do you have a story you would like to share about how NORD has helped and what NORD means to you? Tell us – send us a note using this page on our website: https://rarediseases.org/shareyourstory/. Your story may be chosen to appear on our website or as part of our special anniversary celebration.
At the beginning of 2010, 354 orphan therapies had been approved to treat rare diseases. While this number represented progress (only 10 orphan treatments had been approved in the decade prior to the Orphan Drug Act of 1983), much more needed to be done to help the millions of patients still suffering. In the coming months and years, NORD would establish new ways of elevating the patient voice to address issues – and in turn drive progress – in research, policy, and education.
Beginning with a burst of policy and regulatory efforts in January, NORD, NIH and FDA embarked on an historic collaboration to identify barriers to orphan product development and collectively explore their resolution. As one of its first projects, the newly-formed task force undertook a comprehensive review of the development process. NORD commissioned a qualitative assessment of patient advocate and other key stakeholders’ views from which two clear needs emerged: researchers must better understand the challenges specific to developing rare disease therapies, and the roles and resources of NIH, FDA, and patient advocacy groups must be more widely known. Armed with this information, the task force set out to draft a handbook with input from all groups.
Around this same time, NORD identified another unmet need for patients – Congress had no specific forum for the exchange of ideas and concerns related to rare diseases and to meeting the needs of patients and families. Together, with allies in Congress and the broader advocacy community, NORD succeeded in creating the Rare and Neglected Diseases Caucus, and its launch was announced at the NORD gala in May 2010. In the months that followed, NORD encouraged its members and friends to get involved in advocacy by asking their representatives in Congress to join the caucus.
Work to educate regulators and legislators about patients’ needs continued to bear fruit. On March 23, 2010, the Patient Protection and Affordable Care Act, often shortened to the Affordable Care Act (ACA) or nicknamed Obamacare, was enacted. NORD celebrated its passage because of the protections it afforded rare disease patients, specifically forbidding insurers from discriminating against individuals with pre-existing conditions and outlawing annual and lifetime caps. As yet another sign of progress, FDA established a Rare Disease Office in the Agency’s Center for Drug Evaluation and Research (CDER), Office of New Drugs (OND), creating a rare disease point of contact within CDER for patients and those developing treatments, a post for which NORD had provided advocacy.
Throughout the year, NORD representatives testified at several key public hearings. In public remarks, NORD called for FDA to institute a statement of policy on rare disease and orphan products to reduce regulatory uncertainty and encourage the development of treatments for diseases that had none. Testifying before the Senate, NORD cited examples of families hosting bake sales and car washes to demonstrate how the burden of funding and driving research for rare diseases too often falls upon patients and their families, and called for a more significant commitment at the federal level.
In 2011, NORD continued to provide advocacy in the regulatory space and released a major report on FDA Drug Approvals documenting ways in which flexibility had been applied by FDA in the review of all non-cancer orphan drugs. While praising this flexibility, NORD also submitted a Citizen’s Petition to FDA requesting once again that a documented policy be established regarding the review of potential treatments for people with rare diseases.
Another well-received initiative from this time was an effort seeking to increase the FDA’s understanding and consideration of the risk tolerance that patients have when it comes to new treatments for serious diseases. A task force organized by NORD submitted to FDA a letter signed by 32 patient organizations advocating that more systematic processes be established at FDA to enable contributions from patients, resulting in a significant achievement for NORD and the entire patient community.
In 2012, the FDA Safety and Innovation Act was approved by Congress and signed into law. In a statement NORD called the new law “the most important since the Orphan Drug Act for the rare disease community.” NORD was recognized for playing an instrumental role in developing and shaping this legislation as over the course of two years it had met regularly with senior officials at FDA, legislators, and Congressional staff to educate them about patient needs and concerns.
Because studies showed that getting an accurate diagnosis remained one of the greatest challenges for people with rare diseases, NORD increased its outreach to physicians and other medical professionals. Through the launch of a new online platform, the Physician Guide initiative, NORD began providing information from medical experts on specific rare diseases to clinicians. This content is visited by doctors in more than 120 countries around the world every year.
In the ensuing months NORD also expanded member services to include a broad range of webinars, teleconferences and in-person regional meetings, all aimed at giving members an inside track on current issues and opportunities. Helping its members grow and accomplish their goals always remains at the heart of NORD’s mission.
The year 2014 marked a pivotal time for rare disease research. NORD launched its natural history study platform, IAMRARE™, to encourage patient-driven research. Natural history studies tackle one of the greatest and inherent challenges in rare disease research: having enough longitudinal data to help medical researchers better understand how these diseases develop and progress over time. NORD developed the platform with input from patients and patient organizations, researchers, and regulators as part of its mission to identify and treat all 7,000 rare diseases. IAMRARE is another example of how NORD has worked to make sure patient voices are being heard.
The following year, FDA praised NORD’s Natural History Study platform as “an exciting new tool researchers are using to study rare diseases,” (Janet Woodcock, 2014) and entered into a one-year cooperative agreement to develop 20 new natural history studies, based on a lottery system, for rare diseases. The FDA’s support enabled NORD to expand this important program with a shared goal of supporting patient organizations and helping patients.
Also that year, NORD’s research grant program saw its second FDA product approval. In addition, NORD and the University of Maryland were awarded the Eugene Washington Engagement Award, from the Patient-Centered Outcomes Research Institute (PCORI), to empower patient organization representatives with the knowledge and skills to become more engaged in patient-centered outcomes research for the treatment and cure of their disease. The training program was offered at NORD’s 2015 Rare Diseases and Orphan Products Breakthrough Summit, attended by more than 500 attendees, where 40 member organizations gathered for the exclusive training.
While firing on all cylinders to encourage patient-driven research, simultaneously NORD created a new program for patients and families to help drive health policies that would benefit individuals with rare diseases. NORD’s grassroots advocacy network, the Rare Action Network®, launched with the goal to promote state advocacy and address rare disease patients’ health concerns on the state level.
As part of this initiative, NORD developed and released the first-ever State Report Card to evaluate how states were serving the 30 million Americans with rare diseases. Until its release there had been no comprehensive resource to help make sense of the inconsistencies between states. The initial report, released in 2015, set out to provide a road map of where states could improve and focused on four key policy areas: medical foods coverage, prescription cost sharing requirements, newborn screening, and Medicaid eligibility levels.
Understanding that it was still taking too many years and doctor visits for people with rare disease to receive an accurate diagnosis, NORD intensified its educational efforts. Setting its eye on tomorrow’s health care leaders, NORD established the first rare diseases booth at the American Medical Student Association Annual Convention, the nation’s largest gathering of medical students, and launched a free student membership program and special newsletter for students preparing for health care careers.
Further, NORD established a Patient/Caregiver Speakers Bureau to provide a platform for individuals to promote better understanding of the challenges of their rare disease. In its first year, NORD successfully placed speakers in more than a dozen events around the country.
In 2016, NORD once again served the critical role of unifying and representing the rare disease patient perspective to engage on key federal policy initiatives, including spearheading the effort for Congress to reauthorize the Rare Pediatric Disease Priority Review Voucher program and in passing the Advancing Hope Act, both aimed at helping pediatric rare disease patients. NORD also provided a key patient voice in the Zika funding debate on Capitol Hill and mobilized the patient community to advocate for the expansion of Medical Foods coverage in TRICARE, creating one of the broadest medical foods coverage policies in the U.S. Efforts culminated in December when 21st Century Cures was signed into law, creating one of the nation’s largest efforts to spur the development of new medicines. NORD had worked closely with legislators for more than a year to assure that the bill included provisions to support the rare disease community.
Without a pause, January 2017 marked the beginning a year-long effort to respond to quickly-changing new policy proposals that had the potential to harm rare disease patients, as a new administration and Congress set out with an aggressive agenda for health care and tax reform. Ultimately, NORD and other patient advocacy groups prevailed in that patient concerns were heard and a new health care bill failed to pass to replace the ACA.
Also that year, NORD single-handedly led the charge to protect the Orphan Drug Tax Credit, a critically important incentive for developing orphan drugs, by bringing advocates together for a rally day, publishing multiple coalition statements, and providing tools and resources for advocates to get involved with virtually.
As concerns around drug pricing escalated across the country, NORD commissioned a study to help understand claims that orphan drugs were driving up health care costs. The report, completed and released by the QuintilesIMS Institute in October 2017, showed that orphan drugs accounted for only 7.9% of total drug sales in the U.S. in 2016. The study helped to address a number of public policy and health care financing issues.
Later that year, NORD celebrated as President Trump signed into law the Food and Drug Administration Reauthorization Act of 2017. For more than two years, NORD had played a central role in ensuring individuals with rare diseases would benefit by the reauthorization of the FDA user fee programs. This law made it possible for FDA to continue to review orphan drugs, biologics, and medical devices expertly, quickly, and safely, and also included several critical improvements to FDA’s review of orphan therapies and medical devices.
While federal policy dominated much of the news cycle in 2017, NORD continued to devote resources to the other parts of its mission, including public awareness of rare diseases. NORD produced and released an award-winning documentary, “Good Morning Peyton,” showing how it partnered with one boy’s hometown to turn one special night into day for him. The film was created as part of NORD’s Do Your Share campaign, which had launched earlier in the year with a public service announcement to shed light on the need for more discussion on rare diseases and inspire individuals and communities to show their support for those impacted by them.
As part of its mission to educate medical professionals about rare diseases, NORD launched a free continuing medical education (CME) program. The first event, Finding a Zebra Among Many Horses, covered diagnostic hurdles, tools and resources for diagnosis, and provided a demonstration of resources for providers and patients.
In August, the first-ever gene therapy was approved by FDA, an action the rare disease community had been eagerly awaiting. In a statement, NORD said: “For many years, rare disease patients have looked to gene therapy with hope that it might someday provide a one-time, curative treatment for serious chronic diseases that otherwise might require a lifetime of symptomatic care or for which there is no effective treatment at all.”
January 4, 2018 marked the 35th Anniversary of the Orphan Drug Act and the formation of NORD. The day launched a year-long commemoration of the two anniversaries along with a renewal of NORD’s national commitment to medical research and programs to advance health care for the 30 million Americans with a rare disease. As part of this renewal, in 2018 NORD launched RareInsights™, an initiative to expand public knowledge of rare diseases and translate that knowledge into real-world solutions for patients and families.
While many challenges remain, major progress has been made in research, orphan product development, and patient access to needed treatments and services. The increasing emphasis on personalized medicine, including genetically targeted drug development, has enabled even more opportunities to develop treatments aimed at rare diseases. FDA has approved more than 700 orphan therapies, nearly half of which have been approved in the past eight years. Last year we also saw 80 treatments approved by FDA for rare indications, the highest number ever.
NORD has evolved and made a difference, too! Launched originally as a telephone and mail information clearinghouse, it has grown and added services over the years. Today it maintains a news-oriented website and active social media communities, administers medical assistance programs, provides publications and other educational materials for medical professionals, builds natural history studies and oversees research grants, and supports 280 member organizations, all with a focus on its mission to help patients and ensure the patient voice is being heard.
Stay tuned for the final post in NORD’s 35th Anniversary series. Anniversaries help us focus on what has been accomplished, and what still remains to be done. The needs of rare disease patients and families are many and complex. With your continued support, NORD will be able to meet those needs for many years to come.
