Cure SMA has awarded a $300,000 preclinical drug discovery grant to Umrao Monani, PhD, at Columbia University, for his project, ” Restoring function at the NMJ: A novel means to treat SMA.”
A drug directed at SMN enhancement, Spinraza, has recently become available but is unlikely to benefit all patients with maximal effectiveness. The objective of this project is to validate a novel genetic factor, besides SMN up-regulation, that could serve as a new target for complementary treatments for SMA.
Dr. Monani and his team will use viral vector technology (gene therapy), to determine if the genetic factor can be reliably delivered to SMA mice and attenuate severe disease. Secondly, the team will determine if the factor is equally potent in its effects across mouse models of differing SMA severity and at different points of time.
These experiments will serve as proof of concept studies to validate moving into IND enabling studies and human trials. The greater the number of ways one can combat SMA, the more likely the entire population of SMA patients will benefit.
Meet Dr. Monani
Who are you?
I am an associate professor in the Dept. of Pathology & Cell Biology at Columbia University and a member of the Motor Neuron Center there. I received my early training in the life sciences and my PhD in genetics, and have spent many years studying diseases that afflict infants and children. In the relatively little spare time that I am accorded, I attend to my two little boys – aged 3 and 7.
How did you first become involved with SMA research?
I was always interested in the causes of human genetic disease and became involved with SMA research in 1991 while a graduate student at Ohio State. I have had a “ring-side” view of the manner in which SMA research has evolved, and helped make model mice that have taught us much about the pathology of the human disease.
What is your current role in SMA research?
We continue to use SMA model mice to better understand how low SMN protein causes neuromuscular disease. The outcome of this work is expected to lead to even better treatments for the human disease.
What do you hope to learn from this research project?
Spinal muscular atrophy is a devastating neuromuscular disorder caused by low SMN protein. SMN repletion as a treatment strategy has recently become available but is unlikely to benefit all patients. The objective of this project is to validate a novel genetic factor that could serve as a new target for complementary treatments for SMA.
How will this project work?
Two approaches are proposed here. Both involve SMA model mice. First, we will use viral vector technology to determine if the genetic factor can be reliably delivered to SMA mice and attenuate severe disease. Second, we will determine if the factor is equally potent in its effects across different mouse models of SMA.
What is the significance of your study?
It is absolutely essential that new approaches to treat SMA are developed. Currently only one strategy, SMN repletion, is being exploited as a means to a treatment. Furthermore, there is presently just one FDA-approved drug that accomplishes this objective. The greater the number of ways one can combat SMA, the more likely the entire population of SMA patients will benefit. A positive outcome to the project will serve as the springboard to another effective way to properly treat SMA.
Drug Discovery Funding
This grant to Dr. Monani is part of $600,000 in new translation drug discovery funding that we’re currently announcing.
This grant was generously funded by a donation made to Cure SMA anonymously in honor of William N. Kanehann. We are grateful for this amazing donation in memory of Billy’s life.