Parent Project Muscular Dystrophy

PPMD is proud to share some exciting news: our very own President and CEO, Pat Furlong, has been named the 2024 recipient of the prestigious Sonia Skarlatos Public Service Award by the American Society of Gene & Cell Therapy. This esteemed award recognizes individuals who have demonstrated outstanding dedication to public service in the field of gene and cell therapy. Pat’s unwavering commitment to advancing research, impacting policy, improving care, and supporting families affected by #Duchenne and #Becker embodies the spirit of this award. Congratulations, Pat, on this well-deserved honor! https://lnkd.in/gabYEVQT

Members of the PPMD community provided testimony today during the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) quarterly meeting, voicing support for adding #Duchenne to the Recommended Uniform Screening Panel (RUSP) for #newbornscreening. In advance of the meeting, PPMD and the Muscular Dystrophy Association, as the nominators of the Duchenne package, requested that the committee delay the vote on adding Duchenne to the RUSP until later in the year, as crucial data that may support the package is anticipated to become available for the committee’s consideration in the near future. Today, the ACHDNC Committee unanimously voted to postpone its decision for up to one year on whether to recommend Duchenne for inclusion on the RUSP until additional evidence is available to make a decision. PPMD is actively working with key opinion leaders and clinicians to bring forth additional data and we anticipate learning more from the states who have and will begin screening. We are appreciative to the ACHDNC for recognizing our request for a delay to allow for a more comprehensive consideration of additional data, and extend our heartfelt gratitude once again to the families and experts who shared their testimonies today. Learn more: https://lnkd.in/es7gtZzC

PPMD is excited to bring together experts in the cardiac field, spanning clinicians and researchers, to the third annual PPMD Cardiac Workshop, May 9-10, 2024 to delve into current and emerging issues in cardiac care in #Duchenne and #Becker. Learn more and stay tuned — following the Workshop, PPMD will share updates with the wider Duchenne community in a comprehensive recap blog highlighting key learnings from the meeting. https://lnkd.in/eMXn-xV8

PPMD advocates Marit and son Brecken met with members of the Minnesota House & Senate legislature yesterday at the State Capitol in Saint Paul, MN. We’re thrilled to share that proclamation language recognizing September 7th as #Duchenne Awareness Day in Minnesota has officially been introduced in the Minnesota House of Representatives!

We are devastated to learn of the tragic loss of a young boy that was participating in Pfizer’s Phase 2 DAYLIGHT study. This study is evaluating the safety and dystrophin expression of fordadistrogene movaparvovec (PF-06939926), Pfizer’s gene therapy candidate for #Duchenne, in boys who are two and three years old. The company issued a community letter sharing this devastating news and that it is committed to sharing more information as it becomes available. We anticipate additional updates from Pfizer as the company’s investigation continues. Our hearts ache for this family, and this loss underscores the critical importance of understanding what transpired to ensure the safety of all individuals participating in clinical trials. As a community, it is imperative that we come together to support each other during this time and work collectively towards making advancements in research while prioritizing safety above all else. Read more, including a note from PPMD’s Pat Furlong: https://lnkd.in/eFPg2dkM

PPMD, in collaboration with the Muscular Dystrophy Association, the EveryLife Foundation for Rare Diseases, and the Little Hercules Foundation, recently hosted a webinar on the background, history, and next steps for #Duchenne #newbornscreening on both the state and federal levels. The upcoming ACHDNC meeting on May 9th marks an important milestone for Duchenne’s nomination to the RUSP. Watch the webinar recording, learn about the upcoming ACHDNC meeting, and get involved in our newborn screening efforts here: https://lnkd.in/etKA2hZF

PPMD is pleased to share that a new genetic counseling practice resource for dystrophinopathies, including #Duchenne and #Becker muscular dystrophy and carriers, has been published in the Journal of Genetic Counseling. PPMD Certified Genetic Counselors, along with other board-certified genetic counselors from the National Society of Genetic Counselors, served as authors of this practice resource, for which PPMD provided official endorsement. This practice resource aims to address the unique and complex aspects of genetic counseling for Duchenne and Becker muscular dystrophy and carriers, and all the dystrophinopathies, and ensure that patients and their families receive optimal genetic counseling services and care. Learn more: https://lnkd.in/eXDjg4hn

Identifying neuromuscular diagnoses can be difficult. The signs may be subtle variants of normal behavior and development, and may be hard to discern. Tools pediatricians can use to help recognize the signs and symptoms of #Duchenne include:   -- PPMD worked with the Centers for Disease Control and Prevention (CDC) to develop ChildMuscleWeakness.org, a tool to enable medical professionals to recognize the possible signs of neuromuscular disorders and to seek diagnosis. -- For families still in the observation stage, the American Academy of Pediatrics has developed the Physical Developmental Delays: What To Look For tool to help parents know if and when to seek additional advice and testing for their child: https://lnkd.in/ezpBE9hx -- The France Foundation has created a learning library including videos, podcasts, and infographics to demonstrate early screening, evaluation, and the ongoing role of pediatricians as a member of the patient’s care team: https://lnkd.in/eJxV5PJJ

We are thrilled to welcome the newest addition to the PPMD team, Jodi Wolff, PhD, who joins us as our Chief Program Officer! Jodi brings with her a wealth of experience and an unwavering passion for advocating for individuals with rare diseases, particularly those with neuromuscular conditions such as #Duchenne and #Becker muscular dystrophy. As our Chief Program Officer, Jodi will play a central role in shaping and advancing PPMD’s mission to #EndDuchenne. Her wealth of expertise, coupled with her profound passion and dedication, makes her an invaluable addition to our team. Please join us in extending a warm welcome to Jodi! Meet Jodi: https://lnkd.in/dP-fGJwc