Vamorolone

Milestone event brings together record-breaking 1,300 plus families, physicians, researchers, caregivers, industry partners, and those living with Duchenne and Becker in person and virtually to connect, share information, and learn the latest progress in the fight for every future. ORLANDO, Fla., June 24, 2024 /PRNewswire/ -- Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), will host its 30th Annual Conference in Orlando, Florida, June 27–29. Each year, the Duchenne and Becker community gathers to learn about the latest progress in the fight to end Duchenne and connect with leading experts. Now in its 30th year, PPMD's Annual Conference returns to Orlando, the location of the organization's very first Annual Conference in 1994, to engage more of the Duchenne and Becker community than ever before. PPMD expects a record-breaking 1,300 plus families, researchers, clinicians, and industry partners from all over the world for three days of informative and interactive sessions featuring the latest news in research, clinical trials, approved and emerging therapies, care initiatives, quality of life issues, and more. Before the Conference officially kicks off, PPMD will host a Becker Care Professional Meeting, June 26–27, aimed at initiating discussions within the healthcare professional community regarding the creation of consensus-based standards of care for Becker muscular dystrophy. Founded in 1994 by a group of parents and grandparents, and led by Founding President and CEO Pat Furlong, PPMD is the largest, most comprehensive nonprofit organization in the United States focused on ending Duchenne. Since its first meeting 30 years ago, PPMD has convened families with researchers, clinicians, industry partners, advocacy organizations, and most importantly, people with Duchenne and Becker and their families at the largest Duchenne-specific conference held in the U.S. Furlong is excited about this year's milestone Conference and looks forward to bringing the Duchenne and Becker community together: "From PPMD's first Annual Conference 30 years ago to our momentous return to Orlando this week, this community's unwavering commitment, passion, and resilience have been the driving force behind our fight for every future. We have faced challenges and celebrated victories and we have motivation to keep progressing. PPMD's 30th Annual Conference will be filled with a variety of interactive experiences to spark conversation, foster new and familiar relationships, learn from one another, and continue to drive change in the fight to end Duchenne." PPMD is grateful to all of our industry sponsors, whose support helps make the Annual Conference possible, especially our 30th Anniversary Star sponsor Sarepta Therapeutics, our Platinum sponsors Catalyst Pharmaceuticals and Pfizer, Inc., and our Gold sponsors Avidity Biosciences, Dyne Therapeutics, Edgewise Therapeutics, ITF Therapeutics, NS Pharma, Inc., Upsher-Smith Laboratories, and Wave Life Sciences. For sponsorship opportunities, please click here. PPMD's 30th Annual Conference agenda will feature stories from multiple keynote speakers, and interactive discussion panels addressing comprehensive, multi-dimensional approaches to care for Duchenne and Becker. Unique topics to this year's conference include: Approved therapies in Duchenne, including presentations on the recently expanded label for ELEVIDYS and newly-approved therapies AGAMREE and DUVYZAT, as well as a clinician panel discussion on the eight currently approved therapies. Becker-specific breakout sessions, including discussions on neuromuscular care, cardiology, genetic counseling, and physical therapy, as well as industry updates about emerging therapies for Becker. What we have learned over time about outcome measures, including Functional Reach, Stride Velocity, Dynamic Visual Acuity (DVA), and Northstar and Performance of Upper Limb (PUL). Cardiac, neuromuscular, and adolescent care for carriers, as well as physical therapy implications and research in progress in the field of Duchenne carriers. Unique experiences and perspectives on life, living, and hope, as well as daily life care such as sleep and behavior; decision making around steroids, weight, and nutrition; pain; exercise; social connection; and more. This year's Conference will also feature dedicated updates from more than 20 partners currently in clinical trials, with panels including: Strategies to restore dystrophin The current and evolving landscape of gene therapy Approaches to alter disease progression PPMD's role in moving the needle in clinical research A variety of breakout sessions and social gatherings will also be offered during PPMD's 30th Annual Conference, encouraging attendees to create their own, unique experiences, in-person or virtually, by participating in: Special programming for Newly Diagnosed Families A dedicated track for Teens and Adults with Duchenne/Becker Expanded Sibs Track sessions, offering a safe place for siblings to be together, talk, and open up about topics that they face Breakout sessions according to age, covering multiple aspects of care One-on-one private appointments with Physical Therapists, Genetic Counselors, and behavior, speech, and language experts to help provide guidance on every family's unique needs Small group Lighthouse Mini-Sessions focused on self-care, effective communication, asking for help, and staying connected and finding belonging A Build Your Own Care Binder station for families to create personalized binders filled with important information regarding Duchenne/Becker care to help navigate routine care and emergencies A robust Resource Fair enabling resource providers and the community to connect about practical services, research and more A meet and greet for diverse families in Duchenne to share their unique experiences and foster connection Social activities for moms, dads, grandparents, siblings, and, of course, tweens, teens, and adults with Duchenne and Becker Fun and interactive sessions for kids Ahead of the Conference, all registered attendees were given access to PPMD's online Conference Hub & App to stream sessions and personalize their agenda and Conference experience. This year's Hub & App offers an enhanced experience for both in-person and virtual attendees, allowing for engagement with exhibitors and increased interaction during live sessions. AI-powered live translation will also be available for main sessions in dozens of languages. It is not too late to attend this year's meeting, in-person or virtually. To register for PPMD's 30th Annual Conference, click here. To learn more about PPMD, please visit our website. SOURCE Parent Project Muscular Dystrophy (PPMD)

Biomedical engineers have grown muscles in a lab to better understand and test treatments for a group of extremely rare muscle disorders called dysferlinopathy or limb girdle muscular dystrophies 2B (LGMD2B). The research revealed the biological mechanisms underlying the disease and showed that a combination of existing treatments could alleviate its symptoms. Biomedical engineers at Duke University have developed a new technique to better understand and test treatments for a group of extremely rare muscle disorders called dysferlinopathy or limb girdle muscular dystrophies 2B (LGMD2B). The approach grows complex, functional 3D muscle tissue from stem cells in the laboratory, creating a platform that replicates patient symptoms and treatment responses. In its debut study, researchers reveal some of the biological mechanisms underlying the characteristic loss of mobility caused by LGMD2B. They also demonstrate that a combination of existing treatments may be able to alleviate some of the worst symptoms of the disease. The results appear online June 18 in the journal Advanced Science. LGMD2B affects only about eight people per million around the world. Unlike it's more well-known and more common cousin Duchenne muscular dystrophy, the disease affects both men and women, presents later in life -- in the late teens or early 20s -- and is rarely fatal. However, LGMD2B patients develop severe weakness in the legs and shoulders, typically requiring them to use wheelchairs for the rest of their lives. Caused by a genetic disorder, LGMD2B stops the body from creating a fully functional form of a protein called dysferlin. There are currently no approved treatments or cures. Part of the reason for this lack of options is the many functions of dysferlin, including sealing holes in muscle membranes, regulating calcium balances required for muscle contraction and controlling cellular metabolism. And for reasons unknown, affected muscles initially accumulate fat within the muscle fibers themselves before degenerating and ultimately being replaced by fat cells. "This phenomenon is very rare even for muscular dystrophies," said Nenad Bursac, professor of biomedical engineering at Duke. "It's a burning question within the community of why that happens." One of the challenges facing researchers trying to solve these problems is that the mouse model used to approximate LGMD2B shows very mild symptoms compared to patients. Mice with the disease are still able to walk, and it does not present until nearly a year into their two-year long lifespan, making studies of the disease extremely slow. Dysferlin is expressed in other cell types, and blood levels of metabolic fuels such as cholesterol are also altered in mice and patients. Together, this complicates LGMD2B research by making it difficult to assess what cell types are responsible for the disease and if metabolic changes are due to the loss of dysferlin itself or whole-body effects. To get around these challenges, Bursac and his research scientist Alastair Khodabukus turned to an engineered muscle platform that they have been developing for nearly a decade. The Bursac Lab was the first to grow contracting, functional human skeletal muscle in a Petri dish and has been improving its processes ever since to enable studies of muscle strength, metabolism and repair. This system allowed them to focus their study on only the effects of dysferlin on skeletal muscle without the complications of other cell types or altered blood metabolite pro In the study, the researchers began with induced pluripotent stem cells (IPSCs) derived from patients living with LGMD supplied by The Jain Foundation, a charity focused on finding a cure for LGMD2B. Using their muscle-growing techniques, the lab matured these stem cells into muscle fibers and ran them through a battery of tests over the course of six weeks. Like muscles found in patients themselves, the lab-grown versions displayed a wide variety of issues. "Overall, our model repeated a lot of the clinical manifestations of the disease and observations made in real patients, but it was all done in a Petri dish," said Bursac. "We've been able to gain new insights into the muscle-specific aspects of the disease." The researchers discovered that the loss in muscle strength was not the result of deficiencies in muscle structure or size, but in its handling of calcium. Muscle contractions are physically caused by reservoirs of calcium in muscle cells being released and binding to muscle proteins. Tests showed that the diseased muscle cells had sprung leaks in their calcium reserves, resulting in less calcium to release and weaker contractions. The researchers also showed that the lack of dysferlin caused damage to the muscle cells to go unrepaired, and that an inability to burn fatty acids for energy production was at least partially to blame for the accumulation of fat within muscle fibers that has long puzzled the medical community. "We replicated something seen in patients and showed that it's not due to environmental factors within the body, but issues within the muscle itself," Khodabukus said. The researchers then tested the effects of two drug candidates to potentially treat the disease that have been identified through mouse models but have not yet been tested in humans. One called dantrolene is supposed to stop calcium from leaking from muscle cells' reservoirs. The second, called vamorolone, was recently approved for use with Duchenne muscular dystrophy patients, although researchers do not fully understand how it works. Together, the drugs prevented the calcium leak and helped the cell membrane repair itself, restoring much of the muscles' strength. And while they also helped reduce the amount of fat accumulated within the muscles, they did not fully prevent it, nor did they help the muscles efficiently burn fats for fuel. Moving forward, the group is planning to add immune and fat cells to their experiments for greater complexity. They also are looking to further understand disruptions to cellular metabolism and to find new drugs that fully restore all strength, repair and metabolic deficit. "Right now, we have a basic muscle-only system, which is great to see the effects of the disease within the muscle itself, but what is also important is the crosstalk between immune cells, fat cells and muscle cells," Khodabukus said. "By building out our system more, we'll hopefully be able to fully figure out what is driving the loss of muscle and its replacement by fat in these patients." This research was supported by the National Institutes of Health (UG3TR002142, U01EB028901, R01AR070543, R01AR079223, R01ARO82979, R21AR078269, UH3TR002142) and the Jain Foundation.