PPMD has always prioritized and advocated for optimal care for every person living with Duchenne and Becker. This began with the development of the care considerations, which translated into the standards by which PPMD’s Certified Duchenne Care Center (CDCC) program operates.

We will never stop working alongside brilliant experts in the field to fill gaps and continuously learn and build on guidelines. In the last several years, we have acknowledged more work needs to be done to better care for female carriers of Duchenne and Becker.

Learnings from the PPMD-sponsored carrier study at Nationwide Children’s Hospital have taught us that a high proportion of female carriers have cardiac changes, in addition to potential physical and psychosocial manifestations.

This warrants increased surveillance of cardiac health in women confirmed to be carriers, or females with ‘dystrophinopathy’ (the spectrum of muscle diseases that are caused by a change in the dystrophin gene). However, we recognize it can be incredibly difficult to find a cardiologist with experience treating females with dystrophinopathy, and even more challenging to educate cardiologists without standardized care guidelines.

Launching a Pilot Duchenne & Becker Carrier Clinic at University of Pennsylvania

PPMD is thrilled to announce our grant to the University of Pennsylvania’s Center for Inherited Cardiovascular Disease with a $50,000 award to support the development of a dedicated cardiac care clinic for females with dystrophinopathy.

In addition to providing direct care to females with dystrophinopathy, the team at the University of Pennsylvania will work to develop and implement standardized care practices, aiming to improve the long-term physical and emotional health for female carriers.

PPMD has high hopes this pilot clinic will facilitate the development of other similarly structured clinics following the model of PPMD’s growing CDCC program, with the goal of creating a network of care centers for the moms, sisters, aunts, and other women who don’t currently have a place designed with their unique needs in mind.

JOIN US FOR A WEBINAR

Join PPMD’s Dr. Mena Scavina for a discussion about cardiac care for female carriers of Duchenne and Becker on Tuesday, March 22 at 3:00 PM EDT.

Dr. Scavina will be joined by PPMD’s Ann Martin, genetic counselor, and cardiologists Dr. May Ling Mah (Nationwide Children’s Hospital), Dr. Teresa Wang (Penn Medicine), and Nosheen Reza, MD (Penn Medicine).

Panelists will present on 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.

Register >

PPMD’s Ongoing Carrier Initiative

This pilot clinic is part of PPMD’s ongoing commitment to understand, promote, and support the unique health needs of carriers.

• The Duchenne Registry has long encouraged carriers, both those with symptoms and those without, to join the Registry and share their data.
• PPMD’s Decode Duchenne genetic testing program provides free genetic testing and counseling to people in the Duchenne and Becker muscular dystrophy community, including carriers.
• PPMD provided support to Nationwide Children’s Hospital to initiate a first-of-its-kind carrier study and investigate muscle, heart, and mental health issues in a cohort of more than 200 females over a period of three years. The first results from the cardiac and mental health segments of this study have been published, with important findings in how many carriers have cardiac fibrosis and elevated anxiety and emotional distress.
• PPMD has also supported ImagingDMD, an ongoing muscle MRI study. ImagingDMD is currently enrolling a small number of females into their research to evaluate muscle and fat fraction by MRI, to better understand what muscle looks like in carriers.
• Most recently, PPMD created Duchenne Muscular Dystrophy Carriers: Your Questions Answered, a resource for women who are carriers. The brochure is a comprehensive guide to the questions most often asked by carriers and is available in both English and Spanish. It was developed in collaboration with carriers and with expert providers from neurology, genetics, cardiology, and psychology.