Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), today announced a $50,000 award to the University of Pennsylvania’s Center for Inherited Cardiovascular Disease to support the development of a dedicated cardiac care clinic for female carriers of Duchenne and Becker muscular dystrophy.
| Grant Will Help Establish Cardiac Clinic for Carriers of Duchenne and Becker Muscular Dystrophy With Goal of Creating New Model for Carrier Care WASHINGTON, March 14, 2022 /PRNewswire/ -- Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), today announced a $50,000 award to the University of Pennsylvania’s Center for Inherited Cardiovascular Disease to support the development of a dedicated cardiac care clinic for female carriers of Duchenne and Becker muscular dystrophy.
Duchenne is the most common fatal genetic disorder diagnosed in childhood, affecting approximately one in 5,000 live male births. Duchenne is among a spectrum of muscle diseases known as “dystrophinopathies” that are caused by a change in the dystrophin gene. In two-thirds of cases of Duchenne, the mother is a carrier of the gene variant. Because of the disorder’s X-linked inheritance, sisters, aunts, and other female relatives may also be carriers. Additionally, women may be diagnosed as carriers without any family history due to advances in prenatal genetic screening. In many of these cases, women may manifest symptoms of the disorder, most frequently as changes in cardiac function called cardiomyopathy. The University of Pennsylvania’s Center for Inherited Cardiovascular Disease specializes in helping the entire family identify, understand, and treat genetic forms of heart disease. PPMD’s award will support the launch of the Duchenne and Becker carrier clinic within the center, with the goal of offering both direct care of and establishing and implementing standardized clinical care guidelines for women living with dystrophinopathy. By creating a dedicated place for women to obtain care specific to their needs, PPMD and the University of Pennsylvania (Penn) team hope to foster a shift in how women seek care for themselves and support the growth of similar clinics throughout the country. This pilot clinic is a natural progression in establishing a framework for carrier care after learnings from the PPMD-funded Carrier Study at Nationwide Children’s Hospital. PPMD and Penn have used clinical guidance from Nationwide Children’s to inform the implementation of this important new clinic. “The creation of standards of care for Duchenne has changed the way we think about clinical care for people living with Duchenne and Becker over the last 12 years, and led to the creation of the Certified Duchenne Care Center Program, which has revolutionized how we think about comprehensive care. It was a natural next step to collaboratively think about how we can extend this model for female carriers to ensure they are given the same opportunities to receive excellent care themselves,” said PPMD’s Rachel Schrader, MS, APRN, CPNP-PC, Vice President of Clinical Care and Education. “We are really excited to see what we learn from this pilot, and look forward to working with the Penn team and other clinicians throughout the country to find solutions and create a network of care centers for all of the moms, sisters, aunts, and other women who don’t have a place designed with their unique needs in mind.” In 2021, PPMD announced a grant to Nemours Children’s Health Delaware allowing Dr. Mena Scavina, director of the hospital’s neuromuscular clinic, to spend dedicated time working on this project as an advisor to the PPMD team. “I am grateful to PPMD’s Pat Furlong, Founding President & CEO, and to the entire PPMD team for their support of the idea and creation of this clinic, as well as to the team of experts at Penn for taking hold of this unmet need in the community. As we begin with providing comprehensive cardiac care for female carriers, we hope to learn more and expand to fulfill their needs in various aspects of their health and wellbeing. I believe this effort is an example of how PPMD cares for the entire family affected by Duchenne and Becker,” said Dr. Scavina. “PPMD’s generosity will allow us to work together to provide comprehensive multidisciplinary and coordinated clinical care for these women,” said Dr. Teresa Wang, a cardiologist at Penn Medicine. “We believe this clinic has the potential to improve the long-term physical and emotional health of patients, open an avenue for establishing standardized care and guidelines for female carriers, and provide the impetus for increased awareness and community engagement.” PPMD will host a community webinar about cardiac care for female carriers of Duchenne and Becker muscular dystrophy on March 22 at 3:00 PM EDT. Panelists will discuss the importance of carrier health, learnings from the carrier study at Nationwide Children’s Hospital, and the launch of the new Duchenne and Becker Carrier Clinic at Penn Medicine. To learn more about PPMD’s Carrier resources, click here. ABOUT PARENT PROJECT MUSCULAR DYSTROPHY: Duchenne is a fatal genetic disorder that slowly robs people of their muscle strength. Parent Project Muscular Dystrophy (PPMD) fights every single battle necessary to end Duchenne. We demand optimal care standards and 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 five 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. Follow PPMD on Facebook, Twitter, Instagram, and YouTube.
SOURCE Parent Project Muscular Dystrophy (PPMD) |
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