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An Exciting Milestone for LAMA2-CMD

Expanding on nearly a decade of partnership in the life sciences, the Translational Sciences team at UPMC Enterprises and the University of Pittsburgh (Pitt) provided updates on the successful completion of their first Request for Proposals (RFP), which launched in 2022.

The 2022 RFP focus areas included rare neurological disorders, unsolved autoimmune disorders, and women’s health – three important therapeutic spaces with urgent needs for new medicines. Two teams were awarded, which included Dr. Dwi Kemaladewi and her team, who are focusing on developing treatments for LAMA2-CMD.

Dr. Kemaladewi has dedicated her research career to tackling challenging congenital muscular dystrophies. She and her team have designed a novel gene engineering strategy to restore muscle function in children with LAMA2-CMD. Rather than correcting individual mutations in the LAMA2 gene, which would take up to 600 different therapeutic constructs, Dr. Kemaladewi has designed a one-size-fits-all approach for preventing disability and mortality in these patients, upregulating a compensatory protein to restore muscle function in a mutation-independent manner.

Dr. Kemaladewi and her team, in collaboration with Dr. Rob Nichols, Professor of Pediatrics at the Pitt School of Medicine, also developed a way to deliver the gene therapy, which had previously required two engineered viruses, or vectors, in a single vector. Delivering the therapy with a single vector will reduce potential toxicity of the treatment as well as the cost. They initially focused on showing the efficacy of the therapy before the severe symptoms developed. In humans, however, symptoms and diagnosis of muscular dystrophy do not usually occur until several months after birth. They now turn to showing whether their novel therapy can help reverse nerve and muscle cell damage that has already occurred, and the funding from UPMC Enterprises will support experiments to understand the efficacy of this novel gene therapy at time points reflective of real-world scenarios. Dr. Kemaladewi and the team at UPMC Enterprises are excited for the potential of their work and future impact on children.

“While we celebrate very recent successes of gene therapy in the treatment of muscular dystrophy, more innovation in this space is clearly needed – both to support patients suffering from rarer genetic forms of muscular dystrophy such as LAMA2-CMD, and to leverage emerging therapeutic technologies such as CRISPR-activation” said Matthias Kleinz. “Dr. Kemaladewi has dedicated her career to unraveling these rare dystrophies, and to finding novel solutions that have the potential to restore patient mobility, independence, and quality of life. We are thrilled to support her mission to positively impact this underserved pediatric patient community.”

Cure CMD is thrilled to have provided grant funding for this work in 2015 and 2020, and to see Dr. Kemaladewi receive follow-up funding from not only UPMC Enterprises in 2022, but also the National Institutes of Health New Innovator Award in 2021 . We are grateful to our supporters for making research grants to incredible scientists like Dr. Kemaladewi possible, and there is no better example of how our community is influencing the direction of CMD science.


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