Recent Grants Awarded by Fight SMA
Explanations of FightSMA Funded Projects for 2009
by Dr. Alex MacKenzie, Co-Chair, FightSMA’s Scientific Advisory Committee
In 2008, in collaboration with our Science Director Dr. Chris Lorson, Dr. Clive Svendsen reported the development of SMA-affected motor neurons in the laboratory derived from skin cells taken from an SMA patient. These cells will provide a valuable tool for researchers to ask biological questions about the SMA disease process as well as develop therapeutics in a human disease context, in particular for preclinical identification and testing of promising drugs. In keeping with past practice, FightSMA shall fund the distribution of these valuable reagents to the broader SMA community.
Right now, the most faithful models for SMA are genetically altered laboratory mice. As valuable as these models are, there are difficulties obtaining sufficient tissues to do molecular and high resolution pathologic studies. Moreover, the mouse is at considerable remove from human. The pig is much closer to homo sapiens than mice not merely from an anatomic but also an evolutionary perspective (as humbling as this might be to know). Thus Dr. Monique Lorson’s progress in making an SMA pig is very welcome. Again, this shall be a valuable resource for the SMA research community.
Dr. Kathy Swoboda is one of the worlds leading SMA clinician scientists; she has a valuable cohort of babies with the genetic diagnosis of SMA but who have not yet manifested symptoms of disease. She is studying the impact of phenylbutyrate in this rare cohort, assessing the progress of the disease. The value of this approach is that potentially effective treatments will be more easily detected if applied before motor neurons start to die off.
Finally, our own Dr. Chris Lorson has been a virtual factory in conceptualizing, developing and testing novel potential SMA therapeutic agents (over ten publications in the past two years!) has been funded to carry his pioneering work developing the most promising of these agents.
Generation and distribution of SMA-iPS cells
Clive Svendsen, Waisman Center at University of Wisconsin
Monique Lorson, University of Missouri Columbia
Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants with Spinal Muscular Atrophy (STOP SMA)
Kathy Swoboda, University of Utah Medical School
Testing SMN inducing compounds in SMA mice
Chris Lorson, University of Missouri Columbia
International Spinal Muscular Atrophy Patient Registry
The SMA Patient Registry is supported by the Patient Advisory Group of the International Coordinating Committee for SMA Clinical Trials which includes: Families of SMA, FightSMA, Muscular Dystrophy Association, SMA Foundation, and other SMA advocacy groups.