Our Research Strategy

For 24 years, PPMD has invested in every single therapeutic possibility for Duchenne. We take a cutting-edge approach to accelerate finding treatments that will end Duchenne for every single person impacted by the disease. We actively engage in the drug development pipeline, supporting innovative therapies from the early, discovery stage of the process through our community’s first approvals and the complicated access environment that follows.

Driving Therapies Forward

We take a comprehensive view of the entire landscape to identify opportunities to accelerate the development of therapies and to ensure nothing is missed. Often we start by convening leading experts in the field to advise us on how to develop and test emerging therapies that will help end Duchenne.

  • We partner with key stakeholders (researchers, clinicians, pharmaceutical companies, biotechs, etc.) to execute these strategies and push potential treatments into clinical trials more quickly.
  • PPMD’s Drug Development Roundtable incorporates the knowledge and support of large pharmaceutical companies and small biotechs (our industry partners) with the goal of accelerating the development of meaningful treatments for Duchenne through collaborative efforts on pre-competitive initiatives, thus reducing duplication and gaining resource efficiencies to tackle many of the challenges in drug development.
  • The Duchenne Registry ensures all research and clinical trial strategies developed for individuals with Duchenne are patient powered and focused. Your anonymous data provides researchers and industry insight into the patient perspective and helps speed the clinical trial process.

Investing in Innovation

We invest in innovative research to fight the disease, no matter the mutation, age, or stage of progression.

  • The Drug Development Pipeline is full of potential treatments that are being tested. These include therapeutic approaches that restore or replace dystrophin and those that treat Duchenne symptoms (such as those that protect muscles by reducing fibrosis and inflammation). The goal? To test combinations of these therapies to create the best “cocktail” for each patient.
  • PPMD’s Gene Therapy Initiative is a long-term, multi-million dollar approach that seeks to accelerate the potential of gene therapy as a therapeutic for Duchenne.
  • PPMD has been providing support to the Preclinical Assessment Laboratory for the last 15 years, serving industry by replicating or confirming results of animal studies, de-risking their entry into clinical trials for Duchenne.
  • PPMD’s Cardiac Initiative is our ongoing commitment to cardiac care, because the heart is a muscle too. Heart issues don’t just affect some people with Duchenne – they affect ALL people with Duchenne.
  • Because female carriers of the dystrophin gene are at risk for heart disease, PPMD has initiated a first-of-its-kind carrier study with Nationwide Children’s Hospital to characterize manifesting carriers, women who display varying ranges of Duchenne symptoms as part of our efforts to better understand and support carrier issues.
  • PPMD has been an early funder of several robotic programs that strive to improve the quality of life for people with Duchenne. Our Robotics Initiative is about building strength in a disease that robs people of the ability to perform everyday tasks that most of us take for granted.

Accelerating Drug Development

We develop clinical trial methodologies and tools that address current roadblocks in Duchenne drug development. This includes innovative clinical trial designs that test multiple drugs, multiple arms, and multiple companies at the same time, enabling participation from infants to adults, minimizing exposure to placebo, and allowing success or failure answers more quickly.

  • PPMD is thoughtfully exploring the potential of a Master Protocol in Duchenne that could accelerate clinical trials by standardizing and streamlining many processes that are repeated over and over for each trial and maximizing flexible trial design that is disease focused, allowing for most individuals with Duchenne to participate in a trial regardless of age or ambulatory status, broader labeling, and finding answers to whether a drug is working or not more quickly.
  • To optimize drug development in Duchenne, PPMD participates in two collaborations:

Our Promise to You

We are the largest Duchenne-specific organization that focuses on high potential research opportunities that will impact every single person with Duchenne.  We do not ask for payment. Our return on investment is simple: to End Duchenne.

Our 2018 Research Priorities

The drug development pipeline in Duchenne is rich with promising new therapies in all stages of development, from early/pre-clinical to those approaching the finish line representing multiple therapeutic approaches. Our primary goal is to identify opportunities to accelerate therapies for all. This means keeping our eyes focused on emerging therapies, identifying gaps, and establishing collaborations to drive meaningful therapies that benefit the entire Duchenne population. Not only does PPMD explore and support each of these therapies, we want to ensure that the pathway to approval and the road to access after approval is as easy to navigate as possible.

Below is a list of our current Research Priorities, reflecting some of the most pressing issues our community faces at the moment. This is a list that will be updated and adapted as the research landscape changes:

  • Accelerate treatments for ALL individuals regardless of age or stage of disease.
  • Explore strategies and therapies that restore or replace dystrophin such as gene therapy, exon skipping, or CRISPR and understand the potential immune responses.
  • Define the role of inflammation across the trajectory of Duchenne and identify drugs that will more adequately treat inflammation.
  • Characterize heart disease (dilated cardiomyopathy) in Duchenne and identify drugs to prevent and treat the heart disease.
  • Explore combinations of therapies, knowing that a treatment for Duchenne will likely take a ‘cocktail’ of approaches.
  • Convene foundation members and industry to develop biological signatures and to gain earlier insight into whether a drug, biologic, or gene therapy is having an impact on an individual with Duchenne.
  • Speed the clinical trial process.
  • Leverage resources and data from our industry partners, regulatory partners and The Duchenne Registry to create a streamlined road map to provide industry with critical information for to accelerate and improve the quality of clinical trials.

PPMD’s Impact

  • We have played a vital role in every single victory against Duchenne since 1994.
  • PPMD has invested more than $50 million into Duchenne research. Our contributions over the years have led to advancements inspiring an additional $500 million investment in research from the federal government.
  • PPMD’s leadership in the Duchenne community created an inflection point, resulting in over 40 pharmaceutical companies now in the Duchenne space—companies who have invested approximately $8 billion in the fight to end Duchenne. We are viewed as a leader in collaboration and innovative advocacy strategies, and recognized by the broader rare disease community for our leadership.
  • Since 2016, two therapies have been approved in Duchenne with additional therapies approaching the regulatory finish line. PPMD plays a significant role in this process, convening thought leaders and community members to share their expertise and experiences with regulators and decision makers.
  • By standardizing care at PPMD’s Certified Duchenne Care Centers, many of which are major clinical trial sites, we have improved the Duchenne research and clinical trial ecosystem through reducing population variability and increasing the quality of clinical trial outcome measures. This results in decreasing the time it takes therapies to go from bench to bedside.