Rose Juhasz – Consumer Reviewer Perspective and Appreciation of the CDMRP’s Duchenne Muscular Dystrophy Research Program

I’ve been involved in the medical research industry and advocacy for patients with a variety of conditions for over 20 years. I am currently Director of Oncology Research for a large, multi-state consortium based out of one of the nation’s largest health systems. We enroll hundreds of patients in therapeutic clinical trials each year and also conduct prevention and cancer care delivery research. Unlike cancer, Duchenne Muscular Dystrophy (DMD) is a condition most people have never heard of nor will experience in their families. It is also a condition severely lacking effective treatment and management options, making the Congressionally Directed Medical Research Programs (CDMRP) grant mechanisms extremely important and impactful.

My oldest son, Holden, was diagnosed in 2014 with DMD at age 6.5. Although he had hit all his early developmental milestones, we began to notice his younger brother had started to quickly outrun him and demonstrate much better agility and strength. It was an extremely surprising and devastating diagnosis. Because DMD is typically passed on genetically from mothers through the X chromosome, I had to undergo carrier testing. We also tested my younger son, to rule out that he may have it, too. It was determined I was not a carrier, making Holden’s case of DMD even slightly more rare. Luckily, he was able to qualify for a clinical trial and participated in it for over 4 years, helping a drug reach accelerated approval from the Food and Drug Administration (FDA).

I was nominated to be a consumer reviewer by Parent Project Muscular Dystrophy (PPMD). I have held a variety of volunteer roles with them, including participating on the Scientific Advisory Committee and serving as a panelist at several conferences. I am currently a member of the PPMD Duchenne Drug Development Roundtable and co-chair an initiative to update the current guidance to the FDA on patient-centered drug development. Yearly, I also participate in PPMD’s Advocacy Day and meet with congressional representatives to convey the importance of federal research funding, improved clinical care, and adopting national policies for drug development and assessment that are favorable for the rare disease community.

I knew about the CDMRP first through my work with breast cancer and was thrilled to know this program also had an arm dedicated to DMD. People may be surprised to know that there are currently some overlaps in research for both cancer and DMD, related to the immune system response and strategies to modify it. The ability to repurpose some cancer drugs for use in DMD is also being explored. Programs like the CDMRP provide essential support that is needed for research teams to be innovative and develop concepts that incorporate useful knowledge from other disciplines and/or biological processes. Because DMD is such a complex, multi-system disease, uncovering effective approaches to treat it is a challenging undertaking. While working as a CDMRP reviewer, it was clear that the program is inspiring high quality and promising applications that have potential to lead to wonderful scientific breakthroughs for DMD. I greatly enjoy my work with CDMRP because of the unique opportunity it gives me to advocate for my son, other young men like him, and the strong science that is being developed by many talented researchers across our country.

The views, opinions, and/or findings contained in this paper are those of the author(s) and should not be construed as an official Department of Defense position, policy, or decision.