C3 is pleased to announce the funding of a new research project to Dr. Christopher Heier, of Virginia Commonwealth University in the USA, and Dr. Utkarsh Dang, of Carleton University in Canada. The project is titled “Comparative proteomics of LGMD2A/R1 and Becker muscular dystrophy to develop serum protein biomarkers and predict drug responsiveness in LGMD2A/R1.”
Biomarkers may address trial challenges
The development of effective treatments for limb-girdle muscular dystrophy type 2A/R1 (LGMD2A/R1) faces significant challenges. The relatively slow progression of symptoms makes it difficult to observe noticeable changes in strength over the course of a clinical trial. As new therapies, including gene therapies and small molecules, are being developed for LGMD2A/R1, there is an urgent need for tools to evaluate treatment response in clinical trials. One potential approach to address this challenge is the identification of biomarkers. Circulating biomarkers may allow researchers to detect whether a therapy is working much earlier than traditional clinical outcome measures. In the case of LGMD2A/R1, biomarkers from the blood could help researchers determine how well a drug is working (for example, improving muscle function or slowing disease progression) before changes in muscle strength tests are apparent.
Proteomics identifies altered biochemical pathways
The researchers, in collaboration with GRASP-LGMD investigators, including Dr. Nicholas Johnson of Virginia Commonwealth University, will utilize patient serum samples obtained through the GRASP-LGMD natural history study. By using a technique called proteomics to measure the levels of thousands of proteins in patient samples, they aim to identify proteins that are enriched in LGMD2A/R1 samples and therefore may be useful biomarkers. The approach may also illuminate which proteins and pathways are disrupted by the disease, therefore predicting future targets for drug development. Importantly, they will compare their results from LGMD2A/R1 samples with samples from individuals living with Becker muscular dystrophy. This cross-disease analysis will help to identify biomarker signatures that are specific to CAPN3 deficiency and also to evaluate whether anti-inflammatory therapies may show promise for treating LGMD2A/R1.
C3 Scientific Director Dr. Jennifer Levy notes, “The C3 team wishes to express our gratitude to the participants of the GRASP-LGMD study. Their contributions enabled the current study, which we expect will be extremely helpful for the design of future clinical trials.”
Dr. Heier is excited to move forward, sharing “We are deeply grateful to C3 and to the patient community for making this research possible. By studying the unique and shared molecular changes in LGMD2A/R1, our goal is to build new biomarker tools that allow clinical trials to detect treatment benefit earlier, more accurately, and with less burden for patients. Through this, we can help move promising therapies to families faster.”
Individuals interested in participating in GRASP-LGMD can contact Ruby.Langeslay@vcuhealth.org and Jennifer.Raymond@vcuhealth.org