News, Living with Muscular Dystrophy

MDA, PPMD, TREAT-NMD and World Duchenne Organization Release New Duchenne Guide for Families

Robin Geiger

The first standards of care for Duchenne muscular dystrophy (DMD) were published by the U.S. Centers for Disease Control and Prevention (CDC) in 2010. And today — on World Duchenne Awareness Day 2018 — the DMD care landscape is already, and excitingly, a much different space. Several new therapies, including the first-ever disease modifying DMD drug approved by the U.S. Food and Drug Administration, have spurred further research into next-generation exon skipping therapies. Gene replacement and editing approaches are also in development. And, most importantly, those living with DMD are living longer. 

While there are exciting new developments and a robust pipeline, we still have a long way to go to find a cure. We continue to pursue this important goal, diligently updating the standard model of care throughout our efforts. Earlier this year, the CDC revised its Duchenne care considerations and published them in a series of three articles for health care providers in Lancet Neurology. MDA partnered with multiple DMD patient advocacy groups in the U.S. and across the globe, including TREAT-NMD, the World Duchenne Organization and Parent Project Muscular Dystrophy, to frame the new care considerations in an essential Duchenne Guide for Families.

The guide provides a roadmap for medical care for DMD families. A distillation of the Lancet care considerations, the information is arranged so families can understand disease progression, which specialists their son will need to see, what tests and interventions to expect and when to expect them. The guide allows readers to focus on specific stages and/or areas of Duchenne care in accessible, everyday language.

More than any other data, the lived experience of DMD is what will inform therapies currently in development and discoveries that lie ahead. MDA has already recognized this with the initiation of the Neuromuscular Observational Research (MOVR) Data Hub Cooperative, a Care Center-based registry that will aggregate long term clinical, genetic and patient-reported data for multiple neuromuscular diseases, including DMD. Collecting comprehensive health and patient-experience data has the power to transform medical outcomes, accelerate drug development and continue to refine standards of care like those in the Duchenne Guide for Families.

Living with Duchenne isn’t easy. But our families aren’t alone on the journey. The Duchenne Guide for Families is one resource among many provided by MDA. Patients and families will find strong supporting resources through our Care Centers and clinical trials finder tool. MDA National Resource Center staff — available for one-on-one support via phone or email — are expanding efforts to create a resource hub with increased technology.

I am proud to lead MDA clinical services during this exciting time of data integration and technology infusion. My strongest drive within the organization is to provide the most efficient and standardized processes, creating health equity for patients. And along the way, I hope to improve quality of life for families and caregivers.

You can download and share the Duchenne Guide for Families with your family and support network here. MDA is proud to have been part of this international collaborative effort to develop the guide.

The 2018 Lancet Neurology articles are available for download on Parent Project Muscular Dystrophy’s site:

Dr. Robin Geiger joined the MDA family in July 2018. She leads Care & Clinical Services, including the Care Center Grants Program, the National Resource Center and Program Development. She brings to MDA a solid background as a primary care provider and is a board-certified family nurse practitioner. Her doctoral focus in education and executive leadership aligns closely to the MDA mission team’s needs.