A new paper, “CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype,” was recently published in the journal Human Molecular Genetics. It was authored by a multi-institutional group led by Dr. Melissa Spencer, C3 Scientific Advisory Board Chair and Professor of Neurology and…
Read MoreC3 on Capitol Hill: LGMD Day on the Hill 2026
C3 was proudly represented in Washington, D.C. at the 2026 LGMD Day on the Hill, hosted by The Speak Foundation. C3 Advocacy Chair Melina Garza was selected as a 2026 delegate and had the privilege of leading the Texas and North Carolina delegation through a packed day of advocacy on Capitol Hill. The day began…
Read MoreNew Research Grant Aims to Improve Understanding of Dominant Calpainopathy
C3 is pleased to share that a research grant has been awarded to Drs. Ana Töpf, Jordi Diaz-Manera, and Volker Straub at the John Walton Muscular Dystrophy Research Centre at Newcastle University. This project, titled “Understanding the variable expression of dominant calpainopathies,” explores the molecular basis for LGMDD4, also known as dominant calpainopathy. The Challenges…
Read MoreDr. Melissa Spencer provides update on development of an LGMD2A/R1 gene therapy
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…
Read MoreNew research alert! Expert consortium publishes LGMD2A/R1 longitudinal data
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….
Read MoreLGMD Policy Action Day on Capitol Hill
Over the past two days, I had the privilege of representing Coalition to Cure Calpain 3 in my advocacy chair role at LGMD Policy Action Day on Capitol Hill. Our community came together for a full schedule of meetings across both the House and Senate, ensuring that the realities of ultra-rare drug development remain front…
Read MoreNew Research Grant: Solving the structure of Calpain 3
C3 is delighted to share that a research grant has been awarded to Dr. Peter Davies of Queen’s University in Ontario, Canada. The project, titled “Solving the structure of Calpain 3 and assessing the impact of LGMD2A/R1,” aims to determine the three-dimensional structure of the Calpain 3 enzyme. Further, his lab will investigate how LGMD2A/R1-causing variants impact…
Read MoreNew Year, New Chair: C3 Welcomes Melina Garza to New Role as Advocacy Chair
C3 is thrilled to share that Melina Garza is stepping into a newly-created volunteer position. As Advocacy Chair, Ms. Garza will represent our organization educating stakeholders about calpainopathy and engaging them in C3’s mission to drive research toward a treatment or cure.
Read MoreNew research grant aims to improve genetic diagnostics in individuals with CAPN3 mutations
C3 is excited to share that a research grant has been awarded to Dr. Svetlana Gorokhova and Dr. Marc Bartoli, Translational Neuromyology Team, Marseille Medical Genetics Institute at Aix Marseille University. The project, “Optimizing the functional assay to identify novel CAPN3 variants responsible for the dominant form of calpainopathy,” will develop a tool to help identify the inheritance patterns of CAPN3 variants….
Read MoreNew Research Grant: Investigating calcium handling modulation as a potential therapeutic for LGMD2A/R1
Coalition to Cure Calpain 3 (C3) is driving LGMD2A/R1 research by awarding a new grant to Dr. Elisabeth Barton, Dr. Lan Wei-LaPierre, and Dr. Siobhan Malany of the University of Florida. The project is titled “Store-operated calcium entry modulation as a potential therapeutic for LGMD2A/R1.” This research is co-funded with the Muscular Dystrophy Association (MDA)….
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