Spinal Muscular Atrophy: A Story of Success, Ongoing Needs, and Future Directions

Including potential therapeutic strategies for countering sarcopenia

Video of Dr Arnold’s Lecture (recorded 19 April 2019)

Spinal muscular atrophy (SMA) is a genetic disorder in which a survival motor neuron (SMN) protein deficiency results in the degeneration of motor neurons. Until recently, SMA was the most common genetic cause of death in infants, but exciting progress over the last 10 years has led to some promising developments, including FDA approval to begin clinical trials of the first gene therapy for SMA.

In a Phase 1 clinical trial completed August 2017 at Nationwide Children’s Hospital in Ohio, a one-time dose of the gene therapy extended the survival of patients with spinal muscular atrophy type 1 (SMA1). All of the patients surpassed the benchmark of 20 months, at which time only 8% of the patients with this disease typically survive without permanent ventilation.

W. Dave Arnold, MD

Dr. W. David Arnold — presenter of the 2019 Joseph V Scaletti Memorial Catalyst Lecture — is part of the multidisciplinary team that developed the new SMN gene therapy and administered the clinical trial. In his April 19th talk, Dr. Arnold will provide an overview of therapies for SMA, discuss ongoing unmet needs in the care of patients with SMA, and present recent data suggesting that survival motor neuron protein may have additional roles in the repair and maintenance of motor neurons, including as a potential therapeutic strategy in sarcopenia (the age-related loss of 0.5-1% muscle mass per year after age 50).

Dr. Arnold completed his medical degree at the University of Louisville and his PM&R residency training at the University of Louisville and Frazier Rehabilitation Institute. He later completed fellowship training in neuromuscular medicine and then joined the faculty at the Ohio State University. Dr. Arnold’s research program is primarily focused on translational neuromuscular physiology in health and disease. His prior work helped define the natural history of motor unit loss in spinal muscular atrophy (SMA) and defined the effects of genetic therapies in preclinical models of SMA.  As part of a multidisciplinary team at the Ohio State University and Nationwide Children’s Hospital, he was involved in the first-in-human clinical gene therapy trial in infants with SMA.

At the Arnold Lab for Translational Neuromuscular Physiology at Ohio State, his team is currently investigating the role of motor neuron degeneration in age-related loss of physical function and testing survival motor neuron protein, the protein that is deficient in SMA, as a potential therapeutic strategy in sarcopenia. Dr. Arnold is also interested in developing biomarkers and therapies for other genetic forms neuromuscular disorders, in particular, nondystrophic myotonic disorders and myotonic dystrophy.

His motto? “Nothing great is easy”.

Each year, the Joseph V. Scaletti Catalyst Lecture series features scientific breakthroughs by a biomedical researcher at the forefront of biomedical research and education. Everyone is welcome to attend!

Friday, April 19, 2019
12:00 pm – 1:00 pm
Domenici Center Auditorium
University of New Mexico Health Sciences Center
 
The Joseph V. Scaletti Catalyst Lecture: A Public Forum for Envisioning the Future of Biomedical Research and Innovative Models for Healthcare Education and Delivery

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