Tools for combatting Duchenne muscular dystrophy are already in place

For all people affected by Duchenne muscular dystrophy, several events from the past few years have represented signs of hope and great frustration. In 2016, legislators passed the 21st Century Cures Act —  a sweeping reform designed to streamline the process used to review and approve new drugs, especially those targeting rare diseases.  

Recently, the U.S Food and Drug Administration (FDA) reviewed an investigational therapy for Duchenne called Ataluren. Patients had an opportunity to share their experiences with the drug at a recent advisory committee meeting.

{mosads}Over 60 individuals testified and over 100 people submitted testimonies to the docket from all over the world. It was evident from the first hand accounts from family members, patients, physicians, teachers and therapists that these patients have benefited. But this demonstrated real world benefit does not seem to be enough.

Our mission at CureDuchenne is evident from our organization’s name. The majority of patients do not have a treatment option available. As a result, we must continue to join together to support the generation of new and better therapies that can help more boys affected by Duchenne.

Duchenne is a complex disease with few patients, and treatment benefit often cannot be measured or fully assessed by a single endpoint in a one-year clinical trial. It may take longer to be able to measure benefit through clinical endpoints. The development of treatments for rare diseases requires us to think differently about how to interpret clinical data and how to measure efficacy.

The Safety and Improvement Act (FDASIA) of 2012 and the 21st Century Cures Act of 2016 do include provisions that can lead to new levels of flexibility in the regulatory review process for rare diseases. These tools are in place; they just need to be applied. The time is now.

Regulators have the flexibility to consider accelerated approval for some therapies instead of a denial. Companies would still be required to complete additional research in the future to further validate findings regarding safety and efficacy, but it would bring therapies to many patients sooner.

The regulators must truly assess the full range of data provided, even in cases where a trial misses a primary endpoint. CureDuchenne believes that the totality of the data supports Ataluren’s approval. There is no denying this is a hard disease to study and as science advances we’ve learned more, especially how this disease does advance.

What do we now know that we didn’t know before PTC started studying Duchenne almost 20 years ago? We know that once muscle is gone, it’s gone forever. We know that there is still a lot to know about how the primary endpoint in trials can best provide evidence of treatment effect in a one-year study. We know that the benefit patients experience from treatment cannot be accurately measured by a single endpoint.

We know that the boys who testified at the advisory committee meeting and those not strong enough to travel there do not have time for the perfect trial to be designed to definitively prove Ataluren’s benefits.

The FDA has acknowledged that accidental falls were reduced in the Ataluren treated group. Many Duchenne boys stop walking forever because of fractures due to accidental falls. The incident of fat embolism syndrome also increases with these fractures and both of these consequences are serious and can be helped with Ataluren.

Regulators must also continue to engage with patients and families who have critically important firsthand experience with investigational therapies in rare diseases. We also call on industry to continue to be a part of this effort by taking even more steps to understand the patient perspective in all aspects of their research and in their dealings with the FDA.  

Family and patient experiences and opinions should not be discounted or dismissed. Patients and families have been on the front lines in this battle from the beginning — living with and coping with Duchenne, participating in clinical research and working tirelessly to share insights and information. Families affected by Duchenne deserve a place at the table in every discussion about potential new therapies. 

Patients know this is not a cure but slowing down the progression of this horrible disease, buying boys time and preserving function is important to us. Every added year, every month, every added day is everything to the families. Every added moment is another hug, an additional smile with our sons. I can tell you from firsthand experience that each moment is truly priceless.

Debra Miller is founder and CEO of CureDuchenne, a nonprofit that raises awareness and funds research to find a cure for Duchenne muscular dystrophy.