News Duchenne UK, MDA and PPMD collaborate on $686,500 grant to develop easier way to measure whether new Duchenne muscular dystrophy treatments are working Fast and easy urine test (using new biomarkers) could potentially register changes in muscle mass in Duchenne patients NOVEMBER 16, 2020 (Hammersmith, England/New York City/Hackensack, NJ)— In an unprecedented collaboration designed to speed research advances, Duchenne UK, the Muscular Dystrophy Association (MDA) and Parent Project Muscular Dystrophy (PPMD) have announced a joint grant of $686,500 to Dr. William Evans (principal investigators) at the University of California, Berkeley to use a novel method to measure changes in total muscle mass in Duchenne muscular dystrophy patients through biomarkers in urine samples. These biomarkers may represent a better way to assess new treatments for Duchenne while reducing invasive muscle biopsies or expensive MRI scans that are not available at all clinical trial sites. Biomarkers are naturally occurring molecules, genes, or signals found in blood and urine that reflect changes in the body. For people with Duchenne, biomarkers can show what is happening in the disease, its progress, how drugs and other therapies are working and also help establish or confirm a diagnosis. In 2018, Duchenne UK (with Solid Biosciences) made a grant of $162,600 to Duke University and University of California, Berkeley for an initial study of new biomarkers for Duchenne. The initial study was carried out with 10 boys with Duchenne and 9 healthy boys of a similar age. Now, in a joint collaboration, PPMD, MDA and Duchenne UK are supporting the next phase of research, in the hopes of reproducing these results in a larger study consisting of approximately 150 boys with Duchenne. “The team successfully demonstrated that their method provided an accurate measurement of functional muscle mass in infants, children, and adults" said Emily Crossley, Joint Cofounder and CEO Duchenne UK. “Most important, the study showed that this method worked well in patients with Duchenne.” “If this study is successful, a completely non-invasive, new method of measuring the amount of functional muscle in boys with Duchenne based on a single urine sample may be made possible – signifying a much faster way to assess new treatments for Duchenne and other muscle-wasting diseases.” added Crossley. Eric Camino, PPMD’s Director of Research and Clinical Innovation said, “We are excited to be working together with MDA and Duchenne UK to support the development of a novel biomarker. Biomarkers are a key part of unlocking our understanding of how an individual is changing and responding to investigational therapeutics.” “We know how much families sacrifice to participate in clinical trials. We are happy to join with Duchenne UK and PPMD to support the development of new research tools that may ease that burden while accelerating research,” said Dr. Sharon Hesterlee, Chief Research Officer, MDA. “This may increase the likelihood that individuals with Duchenne participate in clinical trials, and help speed treatments and cures. It would also reduce the need for biopsies and MRI’s of patients in clinical trials. We would like to thank our partner charities and family funds for supporting this project: Duchenne Now, Joining Jack, For Felix, Smile with Shiv, Team Felix, William’s Fund and Henry’s Hurdles. NOTES FOR EDITORS Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease diagnosed in childhood. Children born with DMD cannot produce the protein dystrophin which is vital for muscle strength and function. Muscle weakness starts in early childhood. Many use a wheelchair by around the age of 12. As deterioration continues it leads to paralysis and early death, often in their 20s. It almost exclusively affects boys. There is no treatment or cure. In the UK there are around 2,500 boys affected and around 300, 000 worldwide. It is classified as a rare disease. ABOUT PPMD: Duchenne is a fatal genetic disorder that slowly robs people of their muscle strength. Parent Project Muscular Dystrophy (PPMD) is the largest most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne—our mission is to end Duchenne. We demand optimal care standards and strive to ensure every family has access to expert healthcare providers, cutting edge treatments, and a community of support. We invest deeply in treatments for this generation of Duchenne patients and in research that will benefit future generations. Our advocacy efforts have secured hundreds of millions of dollars in funding and won four FDA approvals. Everything we do—and everything we have done since our founding in 1994—helps those with Duchenne live longer, stronger lives. We will not rest until we end Duchenne for every single person affected by the disease. Join our fight against Duchenne at EndDuchenne.org and follow PPMD on Facebook, Twitter, Instagram, and YouTube. ABOUT DUCHENNE UK: Duchenne UK has one clear aim – to end Duchenne, a devastating muscle-wasting disease. As the leading Duchenne charity in the UK, we connect the best researchers with industry, the NHS and families to challenge every stage of drug development to make the incurable, curable. Together, we will find treatments and cures for this generation of patients with Duchenne. ABOUT THE MUSCULAR DYSTROPHY ASSOCIATION:For 70 years, the Muscular Dystrophy Association (MDA) has been committed to transforming the lives of people living with muscular dystrophy, ALS, and related neuromuscular diseases. We do this through innovations in science and innovations in care. As the largest source of funding for neuromuscular disease research outside of the federal government, MDA has committed more than $1 billion since our inception to accelerate the discovery of therapies and cures. Research we have supported is directly linked to life-changing therapies across multiple neuromuscular diseases. MDA's MOVR is the first and only data hub that aggregates clinical, genetic, and patient-reported data for multiple neuromuscular diseases to improve health outcomes and accelerate drug development. MDA supports the largest network of multidisciplinary clinics providing best-in-class care at more than 150 of the nation's top medical institutions. Our Resource Center serves the community with one-on-one specialized support, and we offer educational conferences, events, and materials for families and healthcare providers. MDA Advocacy supports equal access for our community, and each year thousands of children and young adults learn vital life skills and gain independence at summer camp and through recreational programs, at no cost to families. For more information, visit mda.org.