Dr. Simard is Professor and Head of Biochemistry and Medical Genetics at the University of Manitoba and has been awarded a basic research grant for $25,000 from Families of SMA.

Who are you?
I am a research scientist and geneticist who has sought to find ways to translate our basic understanding of SMA to practical outcomes for SMA families.  Currently, I am Professor and Head of Biochemistry and Medical Genetics at the University of Manitoba, Faculty of Medicine.  Please click here to see the lab website.

How did you first become involved with SMA research?
My interest in SMA was spurred by neurologist colleagues at a time when the gene responsible for SMA had not yet been identified. The neurologists baited the hook, Families of SMA reeled me in!

What is your current role in SMA research?
As a geneticist, I have contributed by meeting families and talking genes and genetics, and by aiding in the transfer of DNA tests from a research lab to a diagnostic lab setting that makes these tests available to SMA families. I am also the lead author that created the Genetics of SMA Booklet for Families of SMA.

As a scientist, I have tried to understand how the SMN gene works to make SMN mRNA and SMN protein. I have also developed new protocols on how to measure these consistently and accurately in patients during SMA clinical trials. I have performed this task for multiple Project Cure SMA clinical trials, such as VALIANT.    I hope that this information will one day translate into new therapeutic approaches for patients and families.

Description of FSMA-funded project.
Validation of Spinal Muscular Atrophy Biomarkers in VALIANT Subjects, $25,000 for 1 year.
Objective:  In 2007, the Project Cure SMA Clinical Trial Network, funded by FSMA,  initiated a Phase II Placebo Controlled Trial of Valproic Acid in Ambulant Adults with Spinal Muscular Atrophy (VALIANT; ClinicalTrials.gov identifier NCT00481013 ) led by Dr. John Kissel. The trial is now completed and the analysis of clinical outcomes is currently in progress.  During the course of the trial, a large number of blood samples were obtained so that a systematic analysis of molecular SMA biomarkers could be achieved.

Research Strategy:  The team plans to measure SMN mRNA in the Simard lab and SMN protein in the Kolb lab using well-characterized, validated assays in SMA patient blood samples. They will also assess a more novel assay of SMN functionality in human samples for SMN functional activity.  In addition, they will assess HDAC activity in these samples, as this is the proposed mechanism for Valproic acid.  It is anticipated that they will detect any biochemical changes in SMA patient blood samples that are the result of VPA administration.
Significance of Project: The design of therapeutic clinical trials for SMA hinges upon the expectation that survival or objective improvement in phenotype will be achieved.   However, this is greatly aided at early stages by molecular biomarkers. At the completion of this project, it is expected that this project will be able to provide clearer recommendations for the design of biological measures in SMA trials.

Click here to see more detail in Compass.