CureDuchenne is one of Patient Worthy’s partner organizations. Patient Worthy partners with a variety of rare disease and patient-oriented non-profits in order to collaborate and help promote one another’s activities. On December 14, 2021, we sat down with Debra Miller, Founder and CEO of CureDuchenne, to learn more about how the organization has become the force for change that it is today.

About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a neuromuscular disease and is one of the most common and severe forms of muscular dystrophy . It is characterized by progressive muscle weakness that usually begins around age four and worsens quickly. As an X-linked genetic disease, males are mostly affected, with females only occasionally displaying mild symptoms. Duchenne is caused by mutations in the DMD gene encoding for dystrophin, a protein muscles need to work properly.. Symptoms of Duchenne muscular dystrophy include falling, abnormal walking posture, eventual loss of walking ability, muscle fiber deformities, intellectual disability (not in all cases), enlargement of the tongue and calf muscles, skeletal deformities, muscle atrophy, heart abnormalities, and difficulty with breathing. Treatment includes a variety of medications and therapies that can help alleviate symptoms and slow disease progression. Lifespan is usually into the thirties with good care. Better treatments for this disease are urgently needed. To learn more about Duchenne muscular dystrophy, click here.

The CureDuchenne Story

Like many who find themselves in the field of rare disease advocacy, Debra’s connection to Duchenne muscular dystrophy is personal. Debra and her husband Paul noticed pretty early on that something was different with their son, Hawken. It wasn’t until a couple of years later that he was diagnosed with the disorder.

“It was so disappointing to not receive a diagnosis earlier because Duchenne can actually be really easy to diagnose.”

Debra wanted to find a cure for the disease and started getting involved in other advocacy groups, but found that the pace of progress and research was far too slow. When Debra founded CureDuchenne in October 2003, she  pioneered an approach in which they worked more closely with biotech companies with the goal of getting therapies into development rapidly. Nevertheless, there was only so much they could do to speed things up.

“Drug development can be really slow and in the meantime, we needed to support these kids and families.”

CureDuchenne Cares is an interactive education and outreach program designed to provide patients, families, and physicians, with information, resources, and best practices for managing the challenges of Duchenne and improving overall quality of life.  

CureDuchenne also started a physical therapy certification program that has helped standardize the approaches used in Duchenne muscular dystrophy and made them more effective. These efforts, along with many others, have helped the organization expand beyond the initial goal of drug development and research.

Identifying promising early research and applying solid scientific vetting has been one of the strengths of CureDuchenne. The organization put funding behind the first approved drug for the disease, EXONDYS 51. It has also backed several other potential treatments that are in the development pipeline, including some that have moved into phase 3 clinical trials.

“We want to make sure that every patient has access to meaningful treatment.”

For other advocates for rare disease that are looking to get started, Debra recommends the FasterCures mentorship program, which matches established organizations with newer nonprofits in order to help the new groups gain momentum, community, and funding.

A critical resource beyond the community itself is the development of a patient registry, which serves as an important tool for effective research.

Debra hopes that CureDuchenne can host its national Futures conference in-person in 2022, rather than virtually as it has for the past two years.

“The Duchenne community, like lots of other rare disease communities, are hungry to be together.”

Debra also anticipates the further success and development of CureDuchenne Link, a centralized data hub that connects information provided by the Duchenne and Becker community directly to researchers who are searching for a cure. On the research and development side, Debra hopes for the organization to continue to fund projects that have the goal of developing treatments that can help all Duchenne patients regardless of age or genetic mutation.

“These companies have been built on the backs of families like ours. We cannot ignore the young adults that have made sacrifices during the process.”

To learn more about CureDuchenne, click here.