Q: What prompted the creation of CureDuchenne?
Imagine having a beautiful baby boy. For four years, your child thrives. One day, you notice he has difficulty standing up. His calves are swollen, and he can't keep up with other children. You take him to his pediatrician, who says he's probably just a slow starter. At five, you finally find a specialist that gives a proper diagnosis: Duchenne muscular dystrophy. Duchenne is a progressive muscle-wasting disease that impacts approximately 1 in every 3,500 male births. Boys are usually diagnosed before the age of 5, in a wheelchair by 12 and most don't survive their mid-20s. Duchenne affects more than 300,000 boys worldwide.
I realized I had to do something to try to save my son and the thousands of other boys afflicted with this rare disease so I co-founded CureDuchenne in 2003 with my husband, Paul. CureDuchenne is a nonprofit organization that raises awareness and funds research to find a cure for Duchenne muscular dystrophy.
We founded CureDuchenne because no other organization was focused exclusively on funding research to find a cure for Duchenne. During the past 10 years, we have used a venture philanthropy model to enable biotech and pharmaceutical companies to leverage more than $100 million to fund promising Duchenne research.
Q: What were the challenges in Duchenne research that you felt CureDuchenne could help address?
We wanted to create a business model that would allow us to help accelerate drug development for the treatment of Duchenne.
We took an educated risk early on and invested in a new technology called exon skipping by funding a small Dutch biotechnology company called Prosensa. CureDuchenne was the first muscular dystrophy organization to fund Prosensa's exon skipping research and in 2004, we committed $1.3 million to further that research. This initial investment came at a critical time for the company.
As research translates from the lab to clinical trials, the amount of money needed increases almost exponentially. Drug discovery and development is risky and expert due diligence is required to help mitigate that risk. Our in-house chief scientific officer and our Scientific Advisory Board help identify promising research. Duchenne patients are in a race against time and we utilize our insight and expertise to fund those projects that are the most likely to advance to become approved treatments for this generation of boys. The typical drug development process takes 15 to 20 years; which, coincidently is the life span of a Duchenne patient. Our mission is to shorten that timeline.
Q: Can you tell us a bit about CureDuchenne's research and development strategies and how they help overcome the barriers you've identified?
We believe that in order to ultimately cure Duchenne, multiple therapeutic strategies working together will be needed to effectively treat the whole disease. CureDuchenne has adopted a comprehensive research strategy to identify and fund novel therapies that target specific components of the disease.
This comprehensive pathophysiological approach to treating the disease includes a three-pronged strategy:
- Treatments to replace the missing protein
- Novel treatments that target the downstream pathophysiology (anti-flammatory, anti-fibrotic and muscle regeneration)
- Treatments to address the cardiac issues
The Duchenne community is not large enough to cure this disease, and we need to find a way to expand fundraising beyond philanthropy to raise the larger dollar amounts needed to get treatments to all those who live with Duchenne.
We created CureDuchenne Ventures LLC to attract investors from outside of the Duchenne community. Our focus is to collaborate with pharmaceutical and biotech companies to facilitate the development of drugs to treat Duchenne. Our three year objective is to fund multiple projects that target the disease pathophysiology and engage investors with return based projects.
Q: What do you consider the organization's greatest accomplishments to date?
To date, CureDuchenne has funded seven research projects that have advanced to human clinical trials. We are proud of this accomplishment as few health-related nonprofits have been as successful in being a catalyst for human clinical trials with limited resources and in such a short amount of time.
Three projects CureDuchenne funded – Prosensa Holdings, Sarepta Therapeutics and PTC Therapeutics – are the closest to being the first drugs to be approved for the treatment of Duchenne. Prosensa recently announced a regulatory pathway forward for drispersen as a potential treatment for Duchenne. They plan to submit a new drug application to the FDA later this year. Sarepta plans to file for approval of its drug, eteplirsen, before the end of year. PTC received favorable guidance from a European advisory panel for its drug ataluren. We are proud to have funded all of these programs and we hope to see each of these drugs approved.
This does not mean our job is done. In fact, these drugs will only help treat a small portion of the Duchenne community. We need to continue to fund research to help accelerate the drug development process until there is a cure for all those with Duchenne.
Prosensa is a good example of our venture philanthropy model. We invested in Prosensa early-on and we received an equity stake. Following the company's 2013 IPO, we are able to reinvest these dollars into additional research on new Duchenne research and hopefully create a sustainable model.
Q: What are your top research goals over the next year and what will it take to reach those goals?
CureDuchenne continues to leverage the results of our venture philanthropy to reach other research goals.
This model allows us to fund projects that might not otherwise attract commercial interest. With money from previous investments we are able to support projects that could impact the lives of Duchenne patients independent of commercial viability. For example, we funded a crucial early stage research program with Dr. Kevin Flanigan at Nationwide Children's Hospital and we will provide additional funding to expand this research from our venture philanthropy gains.
Today, CureDuchenne continues to identify and fund the most promising novel and innovative therapies that treat specific components of the disease, with the goal of translating them to clinical trials in patients as quickly as possible.
CureDuchenne focuses on the research and development of new therapeutic drugs because this is the only thing that can save this generation of Duchenne boys.