Research Highlight December 01, 2013

SMA researchers send drug to clinical trials following successful test in mice

Spinal muscular atrophy (SMA) is a recessive disease and the leading genetic cause of infant and toddler death worldwide, affecting 1 in every 10,000 live births. It is characterized by the loss of motor neurons in the brainstem and spinal cord, leading to the inability to control muscle movements. The disease causes weakness, poor development of skeletal muscles and eventual respiratory failure. Onset occurs from before birth to six months, leaving affected children weak with trouble swallowing, sucking and breathing. There currently is no treatment beyond palliative care, but recent discoveries have led to successful drug testing in mice, holding promise for new therapies for SMA patients.

The new treatments on the horizon result from partnerships between many scientists, research organizations and drug companies. This team effort has advanced research into the disease more quickly than any individual effort could have achieved.

The SMA Foundation leads the way

Understanding the need for standardized, widely available mouse models to push SMA research forward, in 2004 The SMA Foundation began working with The Jackson Laboratory (JAX) to collect models of the disease. The foundation encouraged its funded investigators and others in the field to donate mice to the effort, including pioneering investigators Dr. Arthur Burghes of Ohio State University, and Dr. Hung Li of the Institute of Molecular Biology in Taipei.

Over the next eight years, JAX and the SMA Foundation would characterize SMA mice, develop new models and work with SMA researchers around the country to identify differences in disease onset and severity, and the variety of treatment approaches needed to address them.

Concerted effort leads to new models and treatment approaches

By developing a repository of mouse models at JAX, the SMA Foundation facilitated advances in research progress by ensuring that investigators in the field were using the same mice, to make comparisons of research data valid. This effort enabled investigators to realize progress faster than any one lab could have working on its own or with isolated models. This joint effort has resulted in development of new models representing the three "types" of SMA ranging from mild to most severe, and subsequent research to determine accurately the time of disease onset and when treatment will be most successful.

Closer to a treatment

Developing new therapies to treat and ultimately cure SMA is the main goal for the foundations, families and researchers. Recent news from the Families of SMA Foundation cites that there are now 13 novel SMA therapeutic programs in various stages of preclinical and clinical research, up from just two a decade ago.