More than a Voice: Patients Are Partners in FDA’s Rare Disease Framework Initiative

By Denise Robinson, Executive Director, EHE Foundation

Improving the lives of people affected by EHE is central to every aspect of our work at the EHE Foundation - research, education, advocacy, and support. To make meaningful progress and improve lives, we must ensure the needs and priorities of people with EHE are represented in drug discovery, medical product development, and regulatory convenings and decisions.

In October, I had the opportunity to attend two U.S. Food and Drug Administration (FDA) public meetings. The first meeting on October 16th, “Patient Voice in Rare Disease Medical Product Development,” discussed how patients’ voices can be used to strengthen the drug development process. A second meeting on October 28th focused on FDA’s newly announced “Rare Disease Framework Initiative” - a plan to reimagine the agency’s approach to rare disease development. Over 2,000 people attended this hybrid public meeting, and 72 rare disease patient advocates were selected to provide a comment during the meeting. While we didn’t get to speak, we applaud our advocacy colleagues who had the opportunity to amplify the voices of the people they represent. This is an exciting time for people with ultra-rare and rare diseases, and an important opportunity for people affected by EHE.

According to the FDA’s announcement, they will “develop a framework for rare disease drug development and review where advice and decision-making are consistently tailored to what evidence is reasonably attainable given the nature of the disease, its onset and progression, target population, patient needs, and the characterizations of the product under investigation, and clearly communicated throughout the development and review process.”

The focus on ‘reasonably attainable’ evidence is highly relevant in ultra-rare cancer. In a disease that affects only 1 in 1 million people, all available evidence about the population should be considered early and often throughout the drug development and review process. With limited natural history data and lack of validated biomarkers or clinical outcome assessments, the medical and scientific communities face significant challenges when developing treatments. These barriers are inherent in rare diseases due to the limited population and are exacerbated in ultra-rare cancers like EHE, where the disease presentation and its clinical course are highly variable, unpredictable, and where treatment effects may be hard to measure by standard criteria.

Why this initiative matters for people affected by EHE

• Today, patient advocates are partners in rare disease drug development. We have shown it is impossible to develop and commercialize a treatment for a rare population without including the people who stand to benefit from the treatment in the process.
• As advocates, we are increasingly undertaking components of the drug development process, including generating evidence. We need guidance from the FDA that is written for patient advocacy organizations, not just pharma.
• In a life-threatening disease, patients should not be required to repeatedly argue the burden of the disease. The drug development process should consider all evidence, and particularly honor evidence gathered by patient organizations and clinical experts. Precious resources should be spent on real progress, not checkboxes.
• We want drug developers to be able to invest in very rare populations with clear, risk-based approaches aligned with the targeted population.

The FDA’s new Rare Disease Framework Initiative is underway, and we’re showing up to amplify the voice of the EHE community. During the meeting’s opening remarks, Director of the Center for Biologics Evaluation and Research (CBER) Karim Mikhail stated, “We (FDA) need to move from incremental change to transformational change…”. We couldn’t agree more. Thank you, Director Mikhail.

If you or someone you love is affected by EHE, I encourage you to raise your voice. By documenting that you have the disease and how it affects your life in the EHE Global Patient Registry, you can help the FDA realistically explore patients’ voices; their stated goal is to hear you. Shouting isn’t required. This is a breakthrough moment for people with EHE, and at EHE Foundation, we’re showing up to let the FDA know that you/we have a voice and it needs to be heard.