On a sunny day in June of 1984, the word “Duchenne” first entered my life. “Go home and love them.” Well intentioned advice from doctors who could offer no hope. Could direct us to little help. Knew of few others.
On a sunny day in June of 1994, PPMD convened our first conference in Orlando, Florida. It was the first time the Duchenne community gathered—patients, families, researchers, doctors—in the same room to talk about what was known and what was unknown. We shared ideas. We learned about the biology of dystrophin, the genetic defect, and protein missing. We talked about the need to restore dystrophin. We talked about gene therapy, a whisper, a wish. HOPE.
29 years later, on a sunny day in June, ELEVIDYS was approved for patients aged 4-5 living with Duchenne. The first gene therapy for Duchenne. The first gene therapy approved via the accelerated approval pathway.
These firsts were a long time coming. Our whispers, our wishes. Decades of blood, sweat, tears, and TIME. These firsts were the work of countless people, built on the efforts of the Duchenne community, every single person and family who lived Duchenne. These are big firsts, something we never thought would happen, and now that this is our reality, a window has opened.
The approval was just the first step. Then came the “when.” When will it be available? How long will the process take—for gene therapy centers to establish a process? For the clinics to prepare? For the drug to be delivered to the pharmacy? For insurance companies to agree to cover the therapy? During PPMD’s July 12 webinar, Drs. Russ Butterfield of University of Utah and Sue Apkon of Colorado Children’s noted that it will take time. Time is everything in Duchenne, and what if a child ages out of eligibility before the drug is available? For what feels like the millionth time, we ask, when?
Thanks to the tireless work of clinic teams—the doctors, nurses, clinic coordinators, pharmacists and administrative assistants, and countless other critical team members along the way, some seen and others hidden in the background—we have an answer: 42 days. Just 42 days after it was approved by the FDA, the first patient received this AAV gene therapy just one day before their sixth birthday. The first patient, treated in record time, treated just in time. It’s miraculous and would not have been possible without everyone who worked so hard to get us here. Our whispers, our hopes, our dreams of these firsts, answered by the incredible people in this community.
Gene therapy also has the potential to increase access to treatment for patients who have historically been excluded from receiving other therapies. One of the first children to receive gene therapy in our community last week has a deletion that had previously prevented him from eligibility in any clinical trial. A first option for this family.
With ELEVIDYS, a window has opened.
As we move forward, PPMD is dedicated to working with all stakeholders in the Duchenne community to help all patients who are eligible to receive ELEVIDYS get prompt and affordable access to the therapy. This includes conversations with Medicaid and private insurers to cover gene therapy and all therapies that demonstrate benefit for people living with Duchenne. This includes working to support those that may benefit from gene therapies in their desire to gain access to it and to encourage the FDA to exercise regulatory flexibility for Duchenne patients. This also includes work to demonstrate the need for combination therapies in Duchenne and how to demonstrate this to stakeholders across the board. The work continues.
Today, we take a moment to say thank you to the clinicians and their teams that brought this therapy to patients in record time. To everyone involved that made our hopes, our whispers into these firsts.
These firsts would also not be possible without the generations of Duchenne community members—thousands of brave children and their parents—who paved the way to get us here. I am reminded of Buddy Cassidy’s remarks at PPMD’s Annual Conference this year, during which he quoted Isaac Newton, saying, “If I have seen further than others, it is by standing on the shoulders of giants.” Thanks to you, more sunny days are ahead.