URMC Joins Network Dedicated to Improving Care for Spinal Muscular Atrophy

Oct. 15, 2018
URMC Joins Network Dedicated to Improving Care for Spinal Muscular Atrophy

The University of Rochester Medical Center (URMC) has been selected as one of the first four institutions in the U.S. to participate in the SMA Care Center Network.  The network is being created as new treatments and approaches to care are transforming how spinal muscular atrophy (SMA) is treated.

“SMA is a devastating and often fatal disease,” said Emma Ciafaloni, M.D., a professor in the URMC Department of Neurology. “Until very recently, there were no options available to treat this disease and care was mainly supportive. With new disease modifying treatments now available and with gene therapy on the horizon, it is critical that the medical community establish best specialized clinical centers prepared to diagnose the disease quickly, deliver the best treatments safely and effectively, and care for patients with this disease who will be living into adulthood.”

SMA is a rare hereditary genetic disease that impairs the motor nerve cells in the spinal cord. The disease is caused by a mutation in the survival motor neuron gene 1 (SMN1) which disrupts the production of a protein critical to the function of the nerves that control muscles, often leading to debilitating and potentially fatal muscle weakness. Depending upon the onset and severity of the disease, SMA can lead to difficulty or inability to walk breath, and swallow.  SMA is the number one genetic cause of death in infants.

Individuals with SMA have complex medical needs. Effective care requires a team approach, with neurologists, pulmonologists, physical and occupational therapists, nutritionists, orthopedists, and others working collaboratively to treat individuals with the disease.

The goal of the new network is to deliver standard of care that will improve the lives of individuals with SMA, expand access to new treatments, and create the infrastructure necessary to conduct clinical trials for new treatments.  Member sites will also collect patient care data through the clinical data registry. This information will help clinicians and researchers better understand the new natural history of SMA and the impact of new treatments, including gene therapy.

The tools available to physicians to diagnose and treat SMA have expanded significantly in the last few years. In 2016, the FDA approved nusinersen, the first drug to treat the disease. URMC is one of only two medical centers the state that offer this treatment. Earlier this month, New York State added SMA to its recommended panel of newborn screenings, which will enable physicians to diagnose and begin treatment earlier in the disease process. New genetic treatments for the disease could soon reach the market. As these treatments extend lifespan, the number of individuals living with SMA will increase, requiring more healthcare providers trained in SMA care.

The SMA Care Center Network will eventually consist of 16 centers, the first four of which are URMC, Arkansas Children’s Hospital, Gillette Children’s Specialty Healthcare, and the University of Utah Primary Children’s Hospital.

The SMA Care Center at URMC is part of the Pediatric Neuromuscular Medicine Program which is directed by Ciafaloni, and includes Deb Guntrum, N. P., pediatric pulmonologist Karen Voter, M.D., physical therapist Katy Eichinger, Ph.D., D.P.T., orthopedic surgeon James Sanders, M.D., Erin Collins, and genetic counselors and testing specialist, a dietician, social workers, and nurses.