Coalition to Cure Calpain 3 (C3) is delighted to announce a newly-funded research grant to develop a gene therapy for LGMD2A/R1 using vectors optimized for gene delivery to muscles most affected by the disease. This work involves a multi-lab collaboration between Dr. Melissa Spencer at the University of California Los Angeles and Drs. Jeffrey Chamberlain and Stephen Hauschka at the University of Washington. C3 funding for this project supplements grant support the group received from the National Institutes of Health.
“C3 believes in the promise of gene therapy for LGMD2A/R1 because it is a single-gene recessive disorder and thus amenable to gene replacement strategies,” explains C3 Scientific Director Dr. Jennifer Levy. “However, previous work has revealed that cardiac expression must be avoided for this treatment to be safe. This collaborative project brings together investigators with expertise in LGMD2A/R1 and gene therapy vector development to develop an approach that is tailored to the unique features of this disease.”
Previous work has shown that the gene for calpain 3 can be expressed at high levels in skeletal muscle without toxicity, a finding which makes LGMD2A/R1 gene therapy a realistic goal. However, there are unique considerations related to specific features of LGMD2A/R1 that warrant careful development and assessment of gene therapy vectors for this disease. Of particular concern, expression of the gene for calpain 3 in the heart is toxic. Experiments in this proposal will optimize new vectors that are highly selective for all types of skeletal muscle. The new vectors will then be tested in an LGMD2A/R1 mouse model and assessed for toxicity and therapeutic efficacy.
Dr. Chamberlain notes, “Our studies with the Hauschka lab have identified a large number of muscle-specific expression cassettes with which we are developing vectors able to target select sub-sets of muscle types for gene therapy. By combining these approaches with Dr. Spencer’s unique expertise in calpain biology and models, we hope to develop safe and effective approaches to treating LGMD2A/R1.”
“We are thrilled to have the opportunity to partner with two giants in the gene therapy world in order to develop a new treatment for LGMD 2A/R1,” says Dr. Spencer. “Because the therapy acts on the primary defect in LGMD 2A/R1, this approach is expected to be highly effective in slowing the disease course. We are grateful to the Coalition to Cure Calpain 3 because this support will enable us to move faster to bring this therapy to patients.”
To continue this important work, we need your help. C3 has a pinpoint focus: to drive research for an LGMD2A/R1 cure. Every dollar counts to help grow support and research for this overlooked subtype of muscular dystrophy.
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