UTSW/Children's Health joint program approved as Certified Duchenne Care Center

Reviewed by Emily Henderson, B.Sc.May 27 2020

A joint program of UT Southwestern Medical Center and Children's Health has been approved as a Certified Duchenne Care Center (CDCC) by Parent Project Muscular Dystrophy (PPMD), the nation's most comprehensive nonprofit organization focused on finding a cure for Duchenne muscular dystrophy.

The UTSW/Children's Health collaboration, which involves UT Southwestern physicians providing care at Children's Health, is the 29^th site to be designated as a Certified Duchenne Care Center in the expanding network and the only one in Texas. The network, created in 2014, recognizes accredited neuromuscular programs that maintain the highest standards in clinical and subspecialty services, rapidly apply new evidence-based knowledge, work collaboratively to minimize clinical or methodological diversity in research outcomes, and comply with established CDC standards in clinical care while delivering comprehensive care to all with Duchenne, or DMD.

We are thrilled. This has been a goal for a long time and now we have it. This is public recognition on a national basis for the excellence of our program. It means we are considered by a large community of DMD families to be equal to other leading centers."

Susan Lannaccone, M.D., associate director of the National Institutes of Health-funded Wellstone Muscular Dystrophy Cooperative Research Center at UT Southwestern and co-director of the MDA Pediatric Care Center at Children's Health

Diana Castro, M.D., a neurologist at Children's Health and assistant professor of pediatrics and of neurology and neurotherapeutics at UT Southwestern, says, "The main advantage of being a Certified Duchenne Care Center is for the families, because they can be absolutely reassured that the care we provide meets all the national standards. This recognizes our neuromuscular team, but I also want to recognize the cardiology, pulmonology, endocrine, and orthopedic teams who allowed us to create and develop the multidisciplinary care for these patients."

Kathi Kinnett, PPMD's clinical care advisor, notes, "The team in Dallas has shown immense dedication to Duchenne care and growth in their Duchenne program over the last several years, and has worked closely with the CDCC Certification Committee to meet the robust standards of certification. We're thrilled to certify their center and recognize the great work they are doing for the Duchenne community in Texas."

Usually presenting in early childhood, Duchenne is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a specific protein, called dystrophin, that helps keep muscle cells intact. The as-yet incurable condition primarily affects boys - about 1 in every 3,500 is born with it worldwide - but in rare cases it can affect girls.

Symptoms typically start between ages 2 and 3, initially attacking the proximal muscles (those close to the core of the body) and later affecting the distal limb muscles (those close to the extremities). The heart and respiratory muscles are affected in later stages, forcing patients into wheelchairs as their muscles degenerate and eventually onto respirators as their diaphragms weaken. Progressive weakness and scoliosis result in impaired pulmonary function, which ultimately can cause acute respiratory failure and premature death by the early 30s.

Approximately 300 young patients diagnosed with DMD have been referred to Iannaccone and Castro by their primary care provider, another pediatric neurologist, or through parental online searches. The families, served at the clinic and affiliated institutions like Texas Scottish Rite Hospital for Children, often request information about clinical trials at the first visit and invariably indicate that they are eager to participate. The group is currently participating in eight industry sponsored clinical trials for DMD patients.

"Our team is also very active on a national and international level in clinical research," says Iannaccone, who holds the Warren A. Weinberg, M.D. Chair in Pediatric Neurology and Learning. "We are part of the Wellstone Muscular Dystrophy research network, with Eric Olson serving as the principal investigator." Olson, Ph.D., is chair of molecular biology and director of UTSW's Hamon Center for Regenerative Science and Medicine at UT Southwestern and holds The Robert A. Welch Distinguished Chair in Science, the Pogue Distinguished Chair in Research on Cardiac Birth Defects, and the Annie and Willie Nelson Professorship in Stem Cell Research.

For several years, UTSW researchers led by Olson have been using CRISPR gene editing technology to develop potential treatments for Duchenne in a variety of animal models as well as human skin cultures. In 2018, they reported success in halting the progression of DMD in a large mammal. The research published in Science documents unprecedented improvement in the muscle fibers of dogs with DMD with the use of a single-cut gene-editing technique to restore dystrophin in muscle and heart tissue by up to 92 percent of normal levels. Scientists have estimated a 15 percent threshold will be needed to significantly help patients in the future.