Duchenne muscular dystrophy: UB faculty member co-chaired international panel that issued new respiratory care guidelines

BUFFALO, N.Y. — A faculty member in the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo co-chaired an international expert panel that developed new care guidelines for patients with Duchenne Muscular Dystrophy (DMD).

Daniel W. Sheehan, MD, PhD, associate dean for medical curriculum and clinical associate professor of pediatrics in the Jacobs School, served on the panel of pediatric and adult pulmonologists that updated respiratory care recommendations for the 2018 Centers for Disease Control and Prevention-sponsored care considerations for the diagnosis and multidisciplinary management of DMD. Sheehan also is a physician with UBMD Pediatrics.

The disease is a life-shortening neuromuscular disorder that affects 15.9 per 100,000 males born in the United States. Progressive respiratory muscle weakness and cardiac dysfunction are the major causes of death for these patients between 20-40 years of age.

The new care considerations were published online in Lancet Neurology on Jan. 23: http://dx.doi.org/10.1016/S1474-4422(18)30025-5.   

Sheehan works closely with Parent Project Muscular Dystrophy (PPMD), a patient advocacy organization, to disseminate patient and family guides that explain these care considerations.

Noting that the disease strikes boys and men in the prime of their lives, Sheehan said the pace of research with DMD has accelerated, providing significant reasons to be optimistic about the future for these patients.

“It is an incredibly exciting time in DMD care,” Sheehan said, noting, for example, that his colleagues in the Department of Physiology and Biophysics have discovered a possible treatment based on tarantula venom. Rights to the therapy were acquired by Massachusetts-based Akashi Therapeutics, which is commercializing the drug. 

“Genetic and molecular therapies for DMD are being developed at an unprecedented rate.”

“Implementation of these 2018 multidisciplinary care considerations will greatly improve the quality of life of affected boys and men, minimizing morbidity and extending their lives,” he continued. “Multidisciplinary care now can be better standardized so that the efficacy of new therapies can be fully evaluated.”   

Buffalo-area patients stand to benefit from the care guidelines, as well as from new efforts on the Buffalo Niagara Medical Campus between Jacobs School faculty, who see patients at John R. Oishei Children’s Hospital, Buffalo General Medical Center, and at UBMD Pediatrics and Neurology, to strengthen multidisciplinary care.

Sheehan is beginning to work with colleagues in adult and pediatric neurology to establish a multidisciplinary clinic that can apply to become a PPMD Certified Duchenne Care Center. To receive this prestigious national certification, such a center must provide patients at every visit with access to neuromuscular, pulmonary, cardiology, genetic counselling, physical therapy and social work providers, as well as a nurse care coordinator. Other specialties that should be available as needed include gastroenterology, urology, orthopedics, endocrinology, palliative care, surgery, occupational therapy, speech therapy and neuropsychology.  

“UBMD and Kaleida Health are well-positioned to achieve certification,” said Sheehan. “With certification and standardization of care, clinical trials can then be offered on the Buffalo Niagara Medical Campus, better serving our patients and families living with DMD.”

He added that the Cystic Fibrosis Center of Western New York is another example of how collaboration can create exemplary clinical care and research. “In a similar way, we are focused on establishing a PPMD Certified Duchenne Care Center to achieve nationally recognized health outcomes, offering cutting-edge clinical trials to our local patients.”