A “one-size-fits-all” approach to drug pricing and value assessment frameworks undermines development of therapies for people – very often children – with rare diseases. As rare disease companies, we champion policies that help people with high unmet needs by developing innovative cutting-edge medicines and working with federal and state policymakers to address access and affordability.

Learn more about the importance of restoring equity and patient focus when valuing rare disease treatments in this overview.

Washington, DC – June 6, 2022 – The Rare Disease Company Coalition (RDCC), a unified voice of life science companies committed to discovering, developing and delivering rare disease treatments, recently welcomed Amanda (Schechter) Malakoff as its next executive director. Malakoff started in her new role May 31, 2022, and will be a key spokesperson for the RDCC and an advocate for companies dedicated to rare disease treatment development.

“Amanda brings a terrific blend of experience in association management and working on member companies’ legislative and regulatory issues,” said John Jackimiec, chair of the RDCC. “She will play a critical role in extending the reach of our coalition and advancing the policy priorities of the RDCC through our education and advocacy work.  We are all looking forward to her leadership and contributions.”

Prior to joining the RDCC, Malakoff was senior director of member relations for the National Association of Manufacturers (NAM), where she was responsible for representing the policy interests of mid-size manufacturing companies and advising industry executives on government relations strategies. Malakoff previously held client relations roles at Bloomberg Government and the Advisory Board Company, working with pharmaceutical and healthcare leaders on legislative and regulatory monitoring as well as operational best practices. She also worked on Capitol Hill in the office of Congressman John Carney, Jr. Malakoff will graduate in 2023 with a master’s in public administration from the George Washington University’s Trachtenberg School of Public Policy and Public Administration with a focus in regulatory policy.

With a diverse and growing membership, the RDCC informs key policy stakeholders and members of Congress on the unique considerations of life science companies when developing and manufacturing rare disease therapies as well as the importance of improving patient access following U.S. Food & Drug Administration (FDA) treatment approval. The Coalition believes that constructive dialogue with well-informed policymakers will lead to policies and regulations that enable continued innovation and the timely development and commercialization of treatments for the one in 10 Americans living with rare diseases, half of whom are children.

“I am thrilled to join the RDCC during this pivotal time of growth and impact, and honored to step into the position of executive director,” said Amanda Malakoff, executive director of the RDCC. “With more than 90% of rare diseases without a viable treatment, there is an urgent opportunity to advocate for the needs of life science companies working to deliver hope to patients.”

Over the past year, the RDCC has experienced growth in both size and scope. Collectively, RDCC represents 21 company members, totaling $12.4 billion in research and development investments for rare disease treatments. The companies are united around a shared mission to improve the lives of people living with rare diseases.

About the Rare Disease Company Coalition (RDCC)

Founded in May 2021, the Rare Disease Company Coalition represents life science companies committed to discovering, developing and delivering rare disease treatments for the patients we serve. As an education and advocacy-focused coalition of companies, our goal is to inform policymakers of the unique challenges and promises of rare disease drug discovery, development and manufacturing for small population sizes so that critical innovation can continue and positive changes can be enacted for the rare disease community. To achieve this goal, we will use our unified voice to advocate for long-term, consistent, equitable and sustainable government policies that enable life science companies to continue to bring hope and provide access to approved treatments to people living with rare diseases. For more information, please visit rarecoalition.com

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Anna Stallmann

By: Dr Neil Thompson, Chief Scientific Officer at Healx, a company member of the Rare Disease Company Coalition

Innovation in the biopharma industry isn’t always about the development of a new therapy for a condition – sometimes it means pioneering an entirely new approach. Right now, we’re witnessing exactly that, as artificial intelligence (AI) promises to re-engineer the entire drug discovery and development process.

Indeed, AI and other new approaches are allowing novel treatments to be designed, developed and delivered more quickly and on a scale never before seen in the industry. This is offering hope to millions of patients in need – particularly those living with a rare condition (95% of which still lack an approved treatment today).

But what are the implications of this technology for policy, patients and treatment pipelines?

How did we get here?

The historical phenotypic-based and target-based approaches of drug discovery have delivered many of the life-saving and life-changing treatments that health systems now have available to them. Yet, despite the successes, the philosophy of ‘one disease, one target, one drug’ has its limitations.

Traditionally, drugs have been developed to target a single biological entity, and it was viewed as undesirable for a drug to interact with multiple targets due to possible adverse side effects. But this approach often fails complex medical conditions, especially many rare diseases which exhibit a broad range of symptoms and causes.

Increasingly, there is evidence that a molecule hitting more than one target, or multiple molecules targeting a single disease, can create a more efficacious profile compared to single-targeted molecules. However, whilst we are seeing a slight increase in the number of multi-target therapies being approved by the FDA (21% of all FDA-approved agents between 2015-2017 were multi-target drugs), the majority of drugs being studied and in line for approval are still addressing a single target.

This poses a problem for rare diseases not only for the biological reasons mentioned above, but also because policy focused on single target therapies continues to steer therapy development towards common diseases – where there are larger patient populations from which to recoup R&D costs – meaning rare conditions remain overlooked.

Policy for progress

Advances in AI in the last decade have helped improve core processes within the drug discovery and development pipeline – from predicting protein structures and discovering new compounds, to monitoring patients during clinical trials and shaping go-to-market strategies.

AI is particularly adept at tackling the conventional challenges of rare disease treatment development. For example, Natural Language Processing (NLP) models can overcome the lack of consolidated knowledge about a rare condition by automatically scanning literature to fill in the gaps with up-to-date data. Machine Learning (ML) algorithms can speed up the drug discovery and development timeline by looking for connections between diseases and the pharmacology of compounds that are already approved for use in another condition, thereby providing valuable insight into targetable mechanisms for diseases that are still poorly understood biologically. And AI can provide the automation and scale needed to provide cost-effective treatments, thereby reducing the cost of R&D for smaller patient populations.

But therapies for rare diseases can only be developed more efficiently and cost-effectively when policy and regulation keeps up with technology. Promisingly, progress is being made in this space.

The Orphan Drug Act of 1983 ushered in a new energy to focus on rare diseases, granting financial and regulatory incentives for the biotech and pharmaceutical industry to develop treatments for them. The 21st Century Cures Act also provided additional incentives and regulatory changes, and policies like the Orphan Drug Tax Credit and the Accelerated Approval Pathway help improve the likelihood of investment in the rare disease space in order to catalyse the therapy development process and increase the likelihood of therapies reaching patients.

Then there are groups like the Rare Disease Company Coalition, who are championing further changes in policy and regulation to support technological advances in rare therapy development.

Just the beginning

What makes AI and other technological advances so fascinating is that as computing power and improvements to data quality are made, they can be rapidly scaled up. The solutions will come faster and faster as biotechs become able to automate more of the process and run more of it in parallel, with expert humans placed along the chain, at decision points where they can provide maximum impact.

It’s not hard to imagine a future where we’re able to discover treatments for whole groups of conditions at once, guided by both technological and human insight. Suddenly, no disease, however rare, need be overlooked, no question about biology left unanswered.  But policies and regulations need to be in place to support these advances, so that tech-derived therapies can reach patients more quickly, especially in the rare disease sector.

Pharmacology isn’t just another discipline for AI to be applied to. It could be the most disruptive transformation in the 21st century. It is essential that government policies continue to keep pace with innovation so that novel uses of technology, including AI, can be readily deployed and utilized across treatment discovery and development to better support people with rare diseases.  

We are on the cusp of great progress, we can’t afford to be slowed down now.

Bringing over 30 years experience in drug discovery and development, Neil leads Healx’s preclinical work and is deeply passionate about the application of AI to improve rare disease patient access to treatments.

The Orphan Drug Tax Credit is a vital lifeline for rare disease patients and should be protected to preserve hope for the rare disease community. Given that approximately 95% of rare diseases of rare diseases lack an FDA-approved drug, any proposal to reduce the ODTC would have a devastating impact on orphan drug development in the U.S. and on millions of Americans living with a rare disease. We must preserve innovation and not lose the gains that have been made since the passage of the ODA.

Learn more about the Orphan Drug Tax Credit and its role in rare disease treatment development in this overview. 

FDA’s accelerated approval pathway recognizes that a “one-size-fits-all” traditional model cannot always work – especially for serious and unique rare diseases with very small population sizes that progress slowly and variably from patient to patient. Therapies approved through the accelerated approval pathway are subject to the same stringent, evidence-based clinical review and approval standards as the traditional FDA approval process, as well as to post-approval confirmatory trials to verify clinical benefit. 

While less than 10% of all accelerated approvals in its 30-year history have been used for nononcology rare diseases, today’s increased understanding of rare disease and advances in targeted drug development are making it possible to realize the promise of accelerated approval for rare diseases where current treatments don’t yet exist.

As policymakers consider policy proposals that impact the trajectory of rare disease treatment development, we advocate for an approach that considers the unique circumstances of rare diseases and caution against punitive measures that could chill future investment and development of rare disease treatments.

Click here to download this overview on the benefits of the accelerated approval pathway for rare diseases.

Building on our letter submitted to the Oregon Health Authority (OHA) on the proposed renewal and amendment of its Section 1115 waiver, RDCC submitted comments to the Department of Health and Human Services Secretary Becerra and Centers for Medicare and Medicaid Services (CMS) Administrator Brooks-LaSure on the OHA Section 1115 Demonstration Waiver. In this letter, the RDCC expresses concern with the potential impact that waiving certain provisions of Section 1927 of the Social Security Act would have on the discovery and development of new medicines, particularly on treatments and cures for patients with rare diseases who currently have limited or no treatment options.

Limiting Medicaid coverage for viable treatments would have a devastating impact on patients benefiting from this innovation and create a greater healthy equity divide, all while resulting in limited budget savings. This proposal is the wrong solution for patients.

The Rare Disease Company Coalition (RDCC) is proud to support the bipartisan Better Empowerment Now To Enhance Framework And Improve Treatments (Benefit) Act (H.R. 4472 / S. 373). We applaud the work Congress has done to date to advance patient engagement in drug development and this legislation introduced by Representatives Doris Matsui (CA-6) and Brad Wenstrup (OH-2) and Senators Roger Wicker (R-MS) and Amy Klobuchar (D-MN) demonstrates a continued interest in doing so.

The BENEFIT Act addresses the need to reflect the patient perspective and experience in the FDA’s risk-assessment tool. This policy would play a critical role in the FDA evaluation and approval decision regarding drugs and other medical products and will allow the FDA to capture meaningful patient experience, PFDD, and related data as part of the benefit-risk assessment.

The RDCC believes this legislation will advance patient engagement, which ultimately can help advance the development and delivery of
treatments to those living with rare diseases. We applaud Rep. Matsui, Rep. Wenstrup, Sen. Wicker and Sen. Klobuchar for championing policies to improve the regulatory process and supporting the voice of the rare disease patients we serve.

Read our full endorsement letter here.

Why a whole-of-society commitment makes economic sense

By: Gina Cioffi, Senior Manager of Public Affairs at Chiesi Global Rare Diseases, a company member of the Rare Disease Company Coalition. This article was written in response to a new report – “The Burden of Rare Diseases: An Economic Evaluation” – authored by experts at IQVIA and Chiesi Global Rare Diseases.

Rare diseases represent a major societal issue with enormous costs and without a clear, concentrated, whole-of-society effort to address the burden on patients, families and caregivers.

At Chiesi Global Rare Diseases, we set out to studycost drivers contributing to the burden of rare diseases to determine the societal benefit of early diagnosis and availability of pharmaceutical treatments. Along with a number of recent publications on the societal and economic burden of rare diseases, our results concur that the magnitude of the cost burden is staggering. The full report – “The Burden of Rare Diseases: An Economic Evaluation” – is available for download. 

We know that lack of rare disease data compromises care and adds complexity to the innovation and drug approval process. And, the full extent of the patient, family, and societal burden will remain mostly undocumented. Our study was done through systematic review of the literature as well as expert consultation. We sought to identify new ways to better understand the cost drivers and economic impact that a lack of available treatments poses. This endeavor is critical so that policymakers can understand the benefit of investing in pharmacologic innovation, and it will encourage the development of policies to accelerate the availability of, and access to, rare disease treatments.

Discussions with patient advocacy organizations and physicians led to the selection of 24 rare diseases, each with high unmet needs, across five therapeutic areas including metabolic, neurological, congenital, hematological, and immunological. The selection criteria included the degree of unmet need, relative importance to patient advocacy organizations, interest in the scientific community, prevalence, and apparent burden of disease.

Our assessment consideredthe direct, indirect, and mortality-related costs of the selected 24 rare diseases. Direct costs include treatment, medical procedures, hospitalizations, physician visits, home healthcare, and other medical costs. Indirect costs include patient and caregiver productivity loss, work loss, home changes, and traveling and accommodation for medical visits. Mortality costs are based on value of statistical life (VSL) and the difference between average life expectancy and that for people with a rare disease.

Among our findings:

  • The average overall economic burden per patient per year (PPPY) is $266,000, which is approximately 10x the cost associated with mass market diseases.
  • In the detailed analysis of the selected 24 rare diseases impacting 584,000 people in the US, the total cost to society is approximately $125 billion.
  • The cost burden for 8.4 million patients in the US impacted by 373 rare diseases considered in our broader analysis is estimated to be $2.2 trillion per year if treatments were available and $3.9 trillion per year if no treatments were available.
  • The value returned to society if treatment were available for these 373 rare diseases is $1.7 trillion per year.
  • Considering National Institutes of Health (NIH) estimates of 25–30 million Americans with a rare disease, the burden range is estimated to be $7.2 trillion to $8.6 trillion per year.

Although most direct costs are covered by government and commercial insurers, substantial indirect and out of pocket expenses impact patients and their families. We found that cost of rare diseases would be, on average, 21% more expensive PPPY if there was no access to treatment, demonstrating further that therapy access can alleviate government and family burden.

Keep in mind that these overall findings may represent an underestimation. Social costs, including the impact on health-related quality of life, were not part of this analysis.  

A major strength of this study is that it presents an economic tool for analysis of the positive impact of rare disease treatments. This data can help justify increased governmental investment to ensure wider patient access to therapies and policy proposals that are reflective of the unique challenges rare disease patients and companies face.  

Immediate actions that can accelerate access to treatment include passage of the Newborn Screening Saves Lives Act, providing the Centers for Disease Control and Prevention (CDC) funding to increase its support for State Newborn Screening programs, and full funding of the Food and Drug Administration (FDA) Orphan Products Grant Program. Further focus to ensure legislative efforts prioritize and reflect the unique circumstances and needs of rare disease patients is another imperative.

Incentives for drug development, particularly the Orphan Drug Tax Credit (ODTC), have changed the trajectory for many rare disease patients and likely achieved significant reduction in federal spending and overall burden. Prior to the ODTC, the number of annual deaths from rare diseases was growing at a slightly higher rate than that from other diseases (2.0 percent versus 1.3 percent, respectively). In the 10 years following, the number of annual deaths from rare diseases declined at a rate of 3.1 percent, while the annual number of deaths from other diseases continued to grow at a rate of 1.2 percent. And, prior to the ODTC, only 38 drugs were FDA approved for rare diseases. Today more than 650 rare disease drugs have been approved by the agency.

Despite this success, the ODTC was targeted in the 2017 Tax Cut and Jobs Act when Congress reduced the total amount of the tax credit for qualifying clinical testing expenses from 50 percent to 25 percent. Our industry has yet to see the full impact of that reduction, and yet in the Build Back Better Act we faced another devastating reduction to the tax credit.

Our hope is that policymakers will continue to nurture and sustain innovation based on the positive economic return from rare disease therapies.

The bottom line is that access to therapies for people living with rare diseases generates significant value for society. Now is the time for the Administration and Congress to come together with rare disease stakeholders and implement actions prioritizing the unmet needs of 30 million Americans impacted by rare diseases.

Newborn screening is a vital and proven public health program that screens approximately four million U.S. newborns each year. In the first 24 to 48 hours of a baby’s life, a small blood sample is taken to detect serious, often fatal, genetic conditions that can be treated if diagnosed early. We believe equitable access to newborn screening can ensure that all babies have the best chance for a healthy life. Join us in working towards a modern newborn screening system that provides equal access to a timely diagnosis for all babies.

Learn more in this educational resource.

Click here to download an overview of our Policy Focus Areas.