Ryan Colburn is a rare disease patient with a professional background in engineering and operations management, spending portions of his career working on racecars, airplanes, and rockets. Diagnosed with Pompe disease in 2015, he has spent the time since learning about rare disease topics including research, advocacy, and drug development to better understand how to participate in the rare disease ecosystem. He is passionate about patient empowerment and engagement, and actively developing relationships with other patients, advocacy groups, researchers, and pharmaceutical companies. He is driven to find the most effective ways to tackle the challenges of rare disease and break down barriers to the acceleration of progress.  

Hi, I’m Ryan and I have Pompe disease (you: “Hi, Ryan!”).

Having a chronic degenerative condition comes with more challenges than the day-to-day impact of the symptoms. It can feel like your path and dreams are taken from you, that you have to reset your expectations, resigned to giving up control and accepting your role as a passenger to the progression and inevitability of the disease. This feeling is perhaps the most destructive “symptom” of them all. I know this feeling, but increasingly I’ve found ways to climb back into the driver seat.

The foundation of this has been improving my understanding of Pompe disease so that I can take a more active role in my strategy to work with my body to address it. In addition to this, finding ways to advocate by sharing my experience and views toward being a part of the change I’d like to see has been an important part of finding my hope again. And an opportunity to do just that with MDA is coming up: a virtual Pompe patient-focused drug development (PFDD) meeting with the Food and Drug Administration (FDA) scheduled for July 13, 2020.

Why meet with the FDA?

The FDA plays a critical role in the rare disease ecosystem. The administration is charged with a responsibility to ensure both safety and efficacy of new treatments for anything from the common cold to infections to more than 7,000 rare diseases. Pharmaceutical companies interested in developing new therapeutics must submit potential treatments for review and approval during the development process before they can move into trials and again before any product can be sold commercially. The regulatory responsibly of the FDA covers all US territories, but the FDA’s reach is much bigger, with its decisions influencing regulatory bodies worldwide.

Developing enough expertise to make great decisions that enable the best possible health outcomes for each patient who may encounter one of these therapeutics requires a seemingly endless effort. But we can help. The Pompe community and advocacy organizations within it — MDA, the Acid Maltase Deficiency Association (AMDA), and the United Pompe Foundation (UPF) — have come together to hold July’s virtual Pompe PFDD meeting and give the community a chance to influence the FDA’s work.

What is a PFDD meeting and why is it important to participate?

This PFDD meeting is a formal meeting with FDA that is organized to provide our voices and our perspectives as patients and families living each day with Pompe. The purpose of this direct interaction and communication is to educate and share with the FDA our experiences and expectations for what impactful treatments look like first-hand. This is a super-important opportunity to propel our interests as a community to the forefront of regulatory decisions that impact our future health, and the health of those who will come next (from newborn screening data, we can project that each year more than 250 babies in the US and more than 7,500 babies worldwide will be born with Pompe).

We are on the cusp of an exciting period of progress for Pompe and other rare diseases, and I am convinced that the energy that our community brings is the single most important thing for accelerating this progress. As one tool for expressing that energy, these PFDD meetings have shown benefit in the therapeutic development and regulatory review processes for other rare diseases. The FDA has cited several PFDD meetings and their accompanying reports in new drug approvals as key sources of information they considered when reviewing the therapies. This alignment of patient voice and regulatory perspective can also help pharmaceutical companies to better structure their clinical trials, with less burdensome requirements and modified endpoints to better reflect what matters most to us. 

Following the meeting, MDA and its partners will publish a “Voice of the Patient” report that will capture the meeting’s takeaways and polling data from participants.

Who can participate and how?

Anyone in the US can participate. With the influence of the FDA’s decisions on other regulatory decisions worldwide, we can create change not just for our US Pompe community but for all of us. The virtual meeting will be organized with multiple panels on relevant themes within the Pompe community. Selected panelists will provide brief video presentations on their perspective and experiences living with Pompe. Attendees will also have the opportunity to, and are encouraged to, participate through moderated discussions and real-time online polling. Showing the strength of our Pompe community by attending is important — anyone can attend via the live webcast.

Great attendance from the Pompe community shows the FDA how important progress is to us and allows those listening to get the widest range of perspective. Even if you don’t have experience in advocacy, don’t feel comfortable speaking out, or feel that you don’t have anything new to say, join us anyway. We’re building bridges to our future. And who knows — you may make a friend, learn something, or teach something.

In addition to Pompe patients and families and the FDA, the meeting also is open to companies interested in or already working on Pompe treatments. The role of these companies during this meeting will not be an active one, as this meeting is purely about patient and family voice. We do however want to give industry members a chance to hear our voices first-hand. This is especially important because of how critical the patient-FDA-industry relationship is for impacting the rate of progress toward the goal of eliminating the impact of the symptoms associated with Pompe.

If you are interested in participating, register today. Find out more information on the event webpage.