The term “rare disease” is both an apt descriptor and a misnomer. Individually, each rare disease affects a relatively small number of people. But taken together, more than 30 million Americans, and 400 million people worldwide, are affected by one of the 10,000-plus rare diseases — 95% of which have no approved treatment. More than half of those with rare diseases are children, one-third of whom won’t live to celebrate their fifth birthdays.
Despite the urgent need for research and finding new treatments, there is little help in the form of large-scale research funding, like the kind that was made available for Covid-19. There is no Operation Warp Speed for rare diseases; no Moonshot; no multinational or multi-billion dollar coordinated treatment development effort. As a result, parents, caregivers, and patient groups are often forced to become citizen-scientists and drug developers to identify and advance therapeutic candidates to the point where an academic researcher, company, or investor might take an interest.
The latter part of 2021 and early 2022 have seen an unprecedented pullback in biotech markets. A growing number of companies have halted the development of potentially promising gene and cell therapies for ultra-rare conditions, and a few have changed course altogether. This contraction is devastating for rare disease families who have been waiting on seemingly promising development programs for their disease only to see them shuttered.
As if the market-based challenges weren’t enough, a number of worrisome potential policy and regulatory shifts are also in the wind for rare disease communities. Expedited approval pathways, tax incentives, and priority review vouchers, which have combined to incentivize and even popularize U.S.-based rare disease drug development, are all at some risk of restriction or expiration, with more reforms on the way.
Developing and commercializing drugs to treat rare diseases isn’t easy. About half of all rare conditions affect the brain and central nervous system. Even if researchers can pinpoint the exact cause of one of these conditions, it can be difficult to develop and deliver a drug to the brain that will safely and effectively target a cause or address a symptom. Multiply this challenge by thousands of rare conditions, some of which may affect only a handful of people worldwide, and the enormity and complexity of the challenges become clear.
There is still time and opportunity, however, to protect and encourage future innovation in rare disease at the scale necessary to address the enormity of the challenge. Efforts should focus on:
- Raising recognition among policymakers, health economists, payers, and the public of the significant collective burdens and costs of untreated rare diseases around the world;
- Preserving incentive-based policies that catalyze investment and progress in rare diseases that have high risk of serious outcomes and high unmet needs, and small numbers of affected individuals;
- Modernizing, streamlining, and aligning regulatory processes to allow for more adaptive, global, and multi-condition clinical trials and new drug applications, paving the way for simultaneous approval of a single treatment for use across multiple, similar conditions via a common regulatory submission (thereby reducing development costs per drug and increasing commercial viability by expanding the overall population size of patients who would benefit from treatment);
- Supporting patient-driven, early-stage drug discovery and development via organizations and larger-scale drug development companies that provide access to seed capital, shared facilities, labs, and expertise through public-private partnerships and multi-center academic collaborations; and
- Developing innovative technology transfer, investment, and commercialization models, whereby companies or academic institutions can contribute intellectual property from halted or abandoned development programs back to patient communities that have supported the advancement of a promising drug candidate.
Adopting these measures could yield significant progress at a fraction of what was spent on the Covid-19 response, in part because hundreds of regenerative medicines and other therapies for rare diseases are already in development. Building on the early discoveries and progress of patients and advocacy groups, the R&D process can be accelerated by offering flexibility and helping patient-led entrepreneurs avoid mistakes and more rapidly and efficiently get exploratory treatments to a place where they become attractive to investors and potential partners.
Rare disease is arguably the largest disease area of unmet need around the world. It’s also highly likely that the problems solved by finding precision medicines for rare diseases will apply at a broader scale to “bigger” disease areas, generating breakthroughs that will ultimately benefit an even larger pool of people and dramatically reduce the collective burdens of those conditions on families and health systems — which, in the U.S. alone, may be close to $1 trillion a year.
The search for therapies to treat rare diseases is too important to be pushed aside in favor of treatments for more common and less complex disease areas. To ensure that orphan drug development continues to gain traction and more treatments are developed to help people with rare diseases live longer, better lives, everyone with a stake in these diseases, from individual families to multinational pharmaceutical companies, must go well beyond what is being done today and invest and collaborate in a way that reflects the true nature and scale of the challenge that rare diseases represent.
Craig Martin is the CEO of Global Genes, a nonprofit focused on supporting rare disease patients and communities and improving diagnoses and access to treatments. The organization’s funding comes from a mix of membership dues, sponsorship of events and programs, grants from foundations and philanthropic institutions, individual donations, and cause-related marketing. Some sponsorship funding and membership dues come from biotech, pharma, and life science-related companies.