Select Publication Summaries

Researchers at University College London, The Francis Crick Institute, King's College London, and the Institut de Myologie in Paris developed an advanced laboratory model of LMNA-Related Congenital Muscular Dystrophy (L-CMD) using stem cells derived from individuals with the condition, including cells provided by Cure CMD and the CMD community.

This study used the new model to better understand how L-CMD affects muscle cells at a cellular level, and then used it to directly compare two different gene-editing strategies designed to correct the underlying genetic problem.

Researchers at Radboud University Medical Center in the Netherlands published findings from the LAST STRONG study, a natural history study following individuals with LAMA2-Related Dystrophy and SELENON-Related Myopathy over 1.5 years. Because these two conditions share many clinical features despite being caused by different genes, they were studied together to help identify which measurements are sensitive enough to reliably track how each condition changes over time — a critical foundation for designing future clinical trials.

Researchers at Universitat Pompeu Fabra and SpliceBio in Barcelona, Spain, are developing a new way to deliver gene therapy for those living with LAMA2-Related Dystrophy (LAMA2-RD), tackling a problem that has limited gene therapy for this condition for years: the LAMA2 gene is simply too large to fit inside a standard gene therapy delivery vehicle (AAV vector).

Researchers from Baylor College of Medicine, University College London, and the University of Iowa published a comprehensive review on alpha-Dystroglycanopathy (aDG), pulling together decades of research on what causes these conditions and, importantly, where treatment development stands today.

Researchers at the University of Maryland, working with cells provided by the L-CMD Research Foundation, developed new laboratory tools to study the most common mutation that causes LMNA-Related Congenital Muscular Dystrophy (L-CMD): a change in the LMNA gene known as p.R249W. This mutation affects a protein called Lamin A/C, which normally forms a supportive scaffold just inside the membrane surrounding a cell's nucleus.

Researchers at the University of Basel developed a new gene therapy approach for LAMA2-related dystrophy (LAMA2-RD), a form of congenital muscular dystrophy caused by the loss of a protein called laminin-α2.

Researchers reviewed the current science on Selenoprotein N (SelN), the protein involved in SELENON-Related Myopathy (SELENON-RM or SELN-RM, previously known as SEPN1-RM).

Researchers at Hospital Sant Joan de Déu and the University of Barcelona in Spain, together with collaborators in France, developed a new mouse model carrying one of the most common mutation types found in individuals with Collagen VI-Related Dystrophy (COL6-RD). This new model reproduces a type of genetic change that had never before been captured in a living animal, giving researchers a valuable new tool for testing future treatments.

Researchers in Italy, led by teams affiliated with the CNR-Institute of Molecular Genetics and the University of Bologna, published a comprehensive review examining the role of tendons in Collagen VI-Related Dystrophy (COL6-RD). While muscle involvement in this condition has been studied extensively, this review brings together years of research pointing to tendons as an important, and previously underappreciated, contributor to the joint contractures common in this condition.

Research led by scientists at Johns Hopkins University and the National Institutes of Health studied how collagen 6 influences TGF-beta—a signaling molecule involved in muscle repair and scarring.