Category: Research Updates

Melissa Spencer, PhD, Chair of the C3 Scientific Advisory Board and Professor of Neurology at UCLA, recently presented during a webinar hosted by the Muscular Dystrophy Association (MDA). The presentation, aimed at educating the public, gave an excellent background about genes, mutations, and adeno-associated vector (AAV)-based gene therapies. She highlights some of the latest advances…

The GRASP-LGMD Consortium is a group of doctors, physical therapists, and clinical research coordinators who collaborate to measure how the symptoms of LGMD change over time. Studies like this, called Natural History Studies, are critical for the design of future clinical trials. The results of the Consortium’s LGMD2A/R1 study were recently published in the journal Neuromuscular Disorders….

A new paper, “Motor Function in LGMD2A/R1: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness,” was recently published in the journal Neurology: Genetics. This important, C3-funded initiative is a testament to international cooperation, bringing together leading LGMD researchers. They leveraged clinical data collected from 92 individuals with LGMD2A/R1, ultimately advancing the understanding of how…

A group of researchers from the Heimer Institute for Muscle Research in Bochum, Germany have characterized a Capn3-deficient mouse strain. This is one of four strains recently generated by Jackson Laboratories as part of a Coalition to Cure Calpain 3 research grant. This descriptive study analyzed wildtype (WT) and Capn3-deficient (C3) mice of both genders…

A team of LGMD researchers, called the GRASP-LGMD Consortium, published the baseline results of their LGMD2A/R1 clinical outcome study in the Annals of Clinical and Translational Neurology. The study, which was funded in part by a research grant from Coalition to Cure Calpain 3, enrolled 42 individuals across 11 international sites. Each participant completed several measures of their…

Limb-Girdle Muscular Dystrophy 2A/R1 (LGMD2A/R1) is caused by changes in a gene called CAPN3, which provides instructions for making a protein called Calpain 3. This protein is specific to skeletal muscle and, among other functions, helps regulate calcium levels inside muscle cells. In 2022, C3 awarded a research grant to Drs. Elisabeth Barton and Lan…

A paper published by Jason Berman, Children’s Hospital of Eastern Ontario Research Institute and University of Ottawa, along with colleagues from Dalhousie University, AGADA Biosciences, and Binghamton University – State University of New York, shares the development of a zebrafish model of LGMD2A/R1. Zebrafish are often used to study genetic disorders because they grow and…

Coalition to Cure Calpain 3 (C3) is pleased to announce the publication of important research undertaken by Dr. Zarife Sahenk, Dr. Jerry Mendell, and colleagues at Nationwide Children’s Hospital in Columbus, Ohio. The paper, titled “Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1,” was published in Molecular Therapy: Methods &…

A new publication from Dr. Melissa Spencer’s laboratory at the University of California Los Angeles identifies a compound that mimics the effects of exercise in a mouse model of limb girdle muscular dystrophy type 2A (LGMD2A/R1). These studies may point the way to similar compounds that will benefit people living with muscular dystrophy.    Mutations…