Living with a rare disease is challenging for patients, their families, and caregivers.

Many rare conditions lack treatments, and the path to developing new treatments can be a long, arduous process faced with many challenges. This can include legislative challenges, from approval of treatments to access and insurance coverage. Learn how patient advocacy organisations and rare disease communities are driving change in US public policy to make safe and effective treatment options available to all patients.

Current rare disease policy

The National Organization for Rare Disorders (NORD) maintains a list of policy issues that impact the lives of rare disease patients. One featured policy issue is the FDA’s accelerated approval process, which provides patients access to “new, safe, and effective drugs.”

According to a report commissioned by NORD, “Accelerated approval…is a complicated and nuanced pathway with a long and important history.”1 The accelerated approval process aligns with the FDA’s expectations of evidence for safety and efficacy for new medicines, but this alternative pathway allows for different data than in the traditional drug process, such as a surrogate endpoint. The traditional process relies on the demonstration of critical benefit and indication that the benefit outweighs the drug’s or disease’s potential risks. Through an accelerated pathway, the FDA can make this same risk-benefit calculation with the available data to make the treatment available sooner while awaiting additional data from required post-approval studies to confirm its decision.

In the past, the accelerated approval pathway has provided patients with access to drugs that treat everything from HIV/AIDS to cancers. Patients with rare diseases also rely on this pathway to access medication. The process provides a valuable source of hope for the 25 million Americans who live with rare diseases—90% of which do not currently have an FDA-approved treatment.

Access to insurance coverage is another key policy issue. As of this publishing in 2021, NORD has published 70 policy statements on the topic of access to affordable and adequate insurance coverage on both the state and federal levels, including statements supporting issues such as step therapy reform and enhancements to the Affordable Care Act (ACA).

NORD policy statements also address access to innovative medicines and therapies, such as cellular and gene therapy treatments, for patients living with rare diseases. In early 2021, NORD published a statement on recent FDA draft guidance on antisense oligonucleotide drug products, which treat “severely debilitating or life-threatening genetic diseases”—some of which can affect very few people in the US2.

Legal and ethical concerns

There’s a growing need to understand the ethical, legal, and social issues in rare diseases, particularly when it comes to genetic research and personalised medicine3. Considerations like data privacy and governmental oversight are amplified in rare disease research due to the relatively small number of study participants, the challenges of maintaining patient confidentiality, and the lack of available treatments for conditions with limited natural history information.

Divergence in policy frameworks, like laws, regulations, and professional guidelines, can create additional challenges in a field such as rare disease research that relies on otherwise novel and disruptive technologies to create treatment options. Globally, countries offer varying legal incentives to prioritise the development of drugs intended for a small patient population—this lack of harmonisation among regulators presents additional social and ethical considerations.

Advocacy in the spotlight

Groups like the Rare Disease Legislative Advocates (RDLA) support advocacy efforts for all patients living with rare diseases. They operate on the belief that every voice matters, and they believe patients are critical when it comes to changing public policy. By sharing their stories, advocates can amplify their messages, bringing the needs and requirements of the rare disease community to legislators’ attention.

The bipartisan Congressional Rare Disease Caucus is a way for members of Congress to amplify the concerns of their constituents within a larger legislative audience, collaborate on ideas, and facilitate conversations between the medical and patient communities, as well as garner support for legislation aimed at improving the lives of patients with rare diseases. This year, the caucus has addressed the economic burden of rare diseases in the US and the importance of values-based policy on patient outcomes. In the past, areas of focus included accelerating the rare disease innovation pipeline, the impact of COVID-19 on the rare disease community, and the importance of newborn screening and diagnostic testing.

Rare Disease Week is another opportunity for members of the rare disease community and rare disease advocates to come together with their legislators on Capitol Hill. During the event, patients, advocates, and legislators meet and educate each other on legislative issues and share their stories as patients living with rare diseases.

While individual rare diseases affect few members of our global community, the collective rare disease community is vast, and their needs are many. These patients—as well as their families and caregivers—often rely on legislative intervention to ensure that their diseases and treatments receive the funding and attention they need. Ensuring that legislators continue to act on behalf of these patients is just the first step.

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  1. FDA’s Accelerated Approval Pathway: A Rare Disease Perspective. National Organization for Rare Disorders.
  2. NORD Comments on IND Submissions for Individualized Therapies. National Organization for Rare Disorders; March 8, 2021.
  3. Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders. European Journal of Human Genetics; September 19, 2019.