$125,000 awarded to Dr. Gerhard Multhaup, McGill University, in collaboration with Dr. Angela Genge, The Neuro (Montreal Neurological Institute-Hospital) at McGill University.
Approximately 20 percent of inherited cases of ALS result from mutations in the SOD1 gene. It is thought that mutations cause the SOD1 protein to fold into the wrong 3D shape, a process referred to as misfolding, and gain a toxic function within motor neurons.
Originally, this accumulation of misfolded SOD1 protein was thought to only be found in individuals who carry SOD1 mutations, but recent studies have shown that SOD1 mutations may be present in a small percentage of sporadic cases as well (e.g., those without a family history of disease). Therefore, Dr. Multhaup and his team emphasize the importance of promoting the breakdown of these misfolded SOD1 proteins as a therapeutic strategy for all forms of ALS where SOD1 dysfunction is present.
In this study, the research team aims to develop biomarkers that can detect misfolded SOD1 protein in people living with ALS. Biomarkers are biological measures that can be used to understand the real-time processes happening in the body. By discovering new biomarkers to determine the levels of misfolded SOD1, researchers can better understand the effectiveness of drugs that work on clearing these toxic proteins.
An example of an investigational drug that aims to decrease the levels of misfolded SOD1 is AP-101, which is currently being studied in a global Phase 2 clinical trial. The work proposed by Dr. Multhaup and his team could help researchers to monitor the effectiveness of SOD1-targeted therapies, such as AP-101, and ultimately, help us better understand ALS disease processes.