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Patient Perspective: EveryLife Foundation for Rare Diseases

One of our founding Patient Advisory Council Members, the EveryLife Foundation for Rare Diseases, is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.

EveryLife brings to IGT the very critical rare disease community perspective. We had the opportunity to talk to Chief of Policy & Advocacy Annie Kennedy who shared some fascinating statistics as well as an important perspective on the role of gene therapy in the treatment of people with rare disease, including:

  • An estimated 30 million Americans are diagnosed with a rare disease

  • 93% of the more than 7,000 rare diseases have no FDA-approved therapy

  • The current development and FDA approval process for one biologic or pharmaceutical to treat rare diseases can cost hundreds of millions of dollars – and take an average of 15 years.

  • For the 30% of children diagnosed with a rare disease who won’t live to see their 5th birthday, this wait is unthinkable. Further, many transformative therapies that are approved face access barriers that prohibit or delay life-changing treatments from reaching patients.

As Annie shared with IGT, “Prolonged diagnostic delays, and inadequate treatment protocols yield increased healthcare costs and irreversible disease progression for individuals living with rare diseases.”

Considering these stats – can you further explain why gene therapy is such a critical innovation for the rare disease community?

“Gene therapy represents a new, transformative treatment paradigm, with the potential to significantly alter the clinical course of serious, often life-threatening conditions,” Annie explained. “Through the single administration of a gene therapy, a dysfunctional gene can be replaced or modified in order to facilitate normal gene expression. In rare disease patient communities, this paradigm represents not only transformational therapeutic opportunities – but significant reductions in therapeutic administrative burden.”

One-time therapies also have the potential to yield increased equity in therapeutic access by reducing barriers such as frequency, time off work, travel, etc. As Annie described it, “The rising costs of healthcare disproportionally impacts rare disease patients – and the cost of the therapies themselves is only a portion of the financial burden” Currently, families of rare disease patients often travel great distances and at great personal expense to seek expert clinical care, participate in clinical trials, and receive access to approved therapies. The potential of gene therapy treatment to reduce the burden on families of travel for chronic treatment or other health care interventions represents a significant reduction of cost and time.

So, how can we address the barriers to access rare disease patients face?

Annie noted that new payment models, which are currently being considered, can help insurer payment policies keep pace with medical innovation. “Our current healthcare system was not designed to pay the costs of one-time potentially curative therapies,” Annie said. “New payment models are emerging to account for this new treatment paradigm, but existing laws remain a barrier to these innovative payment structures.”

CMS recently proposed changes to the Medicaid Drug Rebate Program to facilitate value-based purchasing arrangements. Annie’s colleague, Jamie Sullivan, joined IGT for a webinar discussion on this proposed rule. The proposed rule is significant in that it sets forth a potential pathway for addressing some of the policy and regulatory barriers currently in place.

“We need new payment approaches that better align with these emerging new treatment approaches. My organization was pleased to see recent CMS proposals reflecting an openess to the types of more flexible frameworks and value-based payment arrangements required to enable biopharmaceutical companies and payers to develop customized approaches that ultimately foster patient access.”

Encouraging more research and innovation to bring gene therapies to these patients is a top priority for EveryLife and the many patient advocates they work with.

As a Patient Advocate Advisory Council member, what do you hope IGT will accomplish?

“We are on the cusp of life-changing discoveries and product approvals for many patient communities. But these amazing treatments will only be impactful if they rapidly reach the patient communities for which they are intended. My hope is that – by working with leaders from stakeholder groups across the ecosystem – we may be able to work in an anticipatory way to ensure that the full potential of these therapies is realized. Simply stated, IGT matters because patients matter.”


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