While approximately 7,000 rare diseases affect an estimated 350 million people worldwide—including 1 in 10 Americans—rare diseases, when considered in the aggregate, are not that uncommon. In the United States, a disease that affects fewer than 200,000 individuals is considered rare. Eighty percent of these rare conditions are genetic in origin and ninety-five percent of all rare diseases are without a U.S Food and Drug Administration (FDA)-approved treatment.
Advances in medicine are ever evolving, yet rare diseases challenge existing diagnostics, medical providers, and health systems, resulting in discordance that is acutely felt by patients and their families. For many rare conditions, information is lacking or imperfect. Health problems can take years to unravel and often involve a great degree of trial and error when it comes to diagnosis, treatment, and management. The costs are high in terms of quality of life and expectancy, expenses, family and caregiver support. And perhaps one of the most undignified aspects of the experience is that the system does not really work to support the full care of the patients it serves. Often, patients and caregivers are left on their own to break down silos in the health care sphere, navigate the links between complex stakeholders in the clinical and research space, and piece together comprehensive whole body care.
Patient advocacy organizations are well-positioned to help bridge the needs of the rare disease community. By providing a resource home for patients and families experiencing a rare condition, small, dispersed disease-specific populations can mobilize to create greater impact together rather than alone. Despite this unification at the community-level, many rare disease advocacy organizations working independently are forced to compete for limited resources with much larger patient communities. This is where the National Organization for Rare Disorders (NORD) comes in. NORD has been the voice of the rare disease community for more than 35 years, providing critical services to patients and families, including those for whom there is no disease-specific advocacy organization. NORD is committed to elevating the patient voice and creating pipelines for information sharing, ensuring that the patient perspective is delivered to key decision-makers. One of the ways that NORD does this is through research, creating equal opportunity for all in the rare disease space to contribute their data.
Patient registries are a valuable tool for collecting information and generating knowledge. These types of research studies are often categorized as natural history studies, where patients enter information over the course of their lifetime about diagnosis, disease management, quality of life, and other metrics, to help provide insight on a rare disease. Patient registries provide several benefits to researchers, pharmaceutical companies, and governmental agencies directly involved with drug approvals. For example, data can become accessible for analysis, which may provide more robust information about disease transitions, thereby informing rigorous clinical research and standards of care; patient cohorts become more accessible which helps in terms of mobilizing the community, building trusted relationships with the patient organization, and clinical trial recruitment, and; patient reported and clinical outcomes may be coupled together to provide adequate evidence to allow for accelerated approval of treatments. Finally, for patients with an undiagnosed disease, data collected in a patient registry may be key to finding common elements across diseases which may lead to more rapid and accurate diagnoses.
Even with the availability of robust rare disease datasets, additional incentives may be needed to advance rare disease research. Often there are few medical experts and researchers who study any given rare disease and, for those researchers, large grants may be prohibitively competitive to support their research initiatives. In these cases, smaller seed grants offered by rare disease patient organizations and foundations can play an important role in establishing long-term rare disease research programs. NORD’s Research Grants Program has done just that. For the past 30 years NORD has helped mobilize support for and coordinate the distribution of funding opportunities to enable researchers to conduct pilot experiments that generate preliminary findings. Armed with this funding and pilot data, researchers are better positioned to apply for larger competitive government grants or corporate partnerships.
Finally, in the United States, pharmaceutical companies that would not otherwise venture into therapeutic discoveries for rare diseases are incentivized to explore treatment options by provisions outlined in the Orphan Drug Act. This law provides incentives to pharmaceutical companies to invest in and manufacture orphan products that would not normally have a return on investment due to the relatively small patient populations being served. Access to novel treatments for rare disease patients may be at risk, as in 2017, the Orphan Drug Tax Credit was subject to a significant reduction, from 50-27.5%, by the US government. This reduction directly jeopardizes therapeutic progress for rare diseases. NORD, in concert with rare disease patient organizations, continues to lobby to preserve this vital piece of legislation.
Despite all of these obstacles, opportunities exist to harness expertise across stakeholders to create systematic changes that address both the unique and common challenges related to rare disease research. Working alongside and in partnership with the rare disease community, NORD is committed to finding sustainable approaches and collaborative solutions that address rare disease research challenges and reduce the burden on patients and their families.
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