Cure CMD Announces 2022 Research Grants

$482,000 Awarded for CMD Science


We are thrilled to announce the newest round of research grants focused on congenital muscular dystrophy, made possible through your support, and in partnership with Muscular Dystrophy Canada, The Olivia Bloomfield Foundation, LAMA2 France, and Giving Strength (for SELENON-RM).


We are so grateful to these amazing partners for helping us expand the research funded for 2022-2024, accelerating progress towards treatments for CMD. “These research projects were selected from a total of 21 proposals that were evaluated by 19 external reviewers, “says Dr. Gustavo Dziewczapolski, Scientific Director, also noting that, “So many of the projects we couldn’t support are truly worthy of funding, and we will continue working to identify individuals and organizations with whom we can partner so these additional projects are funded.”


Rachel Alvarez, Executive Director, adds: “The CMD community should feel true ownership of these exciting projects, made possible through their donations and fundraisers.”

The eight CMD-focused projects funded are:


Principal Investigator: M. Chiara Manzini, Ph.D. - Rutgers Biomedical and Health Sciences (New Jersey, USA).

Project: Developing an array of Dystroglycanopathy mutants in zebrafish for convergent high- throughput drug screening.

Impact Statement: These studies will have major impacts on alpha-Dystroglycanopathy research by identifying novel therapeutic approaches for complete loss of glycosylation. We will also develop in vivo models to compare the molecular and cellular phenotypes caused by genes that lead to a dystroglycanopathy, and test future treatments for genetically heterogeneous conditions in the muscle and brain.

Funder: Cure CMD


Principal Investigator: Jeanette Erdmann, Ph.D. - University of Lübeck (Lübeck, Germany).

Project: Further steps toward an RNA-based therapy for COL6-RD.

Impact Statement: In recent years, there has been rapid development of gene therapy tools. We have recently begun the development of a therapy for glycine mutations in COL6A2, using a novel approach from the CRISPR toolbox called CRISPRoff. This may allow us to take a critical step forward in therapy development for COL6-CMD.

Funders: Muscular Dystrophy Canada and Cure CMD


Principal Investigator: Francesco Saverio Tedesco, MD, Ph.D. - University College London (London, United Kingdom).

Project: Advanced human myo-fibrogenic 3D models for COL6 disease modeling and therapy development.

Impact Statement: The insights gained upon successful completion of this study will uncover novel pathogenic hallmarks and clinically relevant phenotypic readouts of COL6-RD in vitro, which can be applied to many downstream applications. This study will employ 3D muscles created from patient-derived iPSC- myogenic and fibrogenic cells, thus enabling the identification of early pathogenic phenotypes during muscle development.

Funders: Muscular Dystrophy Canada and Cure CMD


Principal Investigator: Dean Burkin, Ph.D. - the University of Nevada, Reno (Nevada, USA).

Project: Biomarker development using Digital Spatial Profiling for LAMA2-RD.

Impact Statement: These studies will aim to identify biomarkers that could be used to assess disease progression in LAMA2-CMD and could be used to test the efficacy of therapeutics currently under development for the treatment of LAMA2-CMD. We will test here if human recombinant Laminin-111 can restore these biomarkers in the mouse model and culture cells from LAMA2-CMD patients.

Funder: Cure CMD


Principal Investigator: Francesco Muntoni, MD - University College London (London, United Kingdom).

Project: Modulation of a transcription factor expression as a novel therapeutic approach for LAMA2-RD.

Impact Statement: The proposed project will provide a basis for future in vivo studies that will generate essential pre-clinical information to develop a novel antisense oligonucleotide-based therapeutic strategy for modulating the expression of a novel LAMA2-RD genetic modifier.

Funders: The Olivia Bloomfield Foundation, LAMA2 France, and Cure CMD


Principal Investigator: Ignacio Perez de Castro, Ph.D. – Instituto de Salud Carlos III (Madrid, Spain).

Project: Study of the potential of CRISPR/Cas technology for the treatment of cardiac abnormalities associated with LMNA-CMD.

Impact Statement: We will test a gene therapy approach in the most frequent mutation associated with LMNA-CMD, R249W. Our results, if positive, would represent a significant advancement toward treatments, enabling the development of a novel therapeutic strategy for LMNA-CMD.

Funder: Cure CMD


Principal Investigator: Ana Ferreiro, MD, Ph.D. – University of Paris (Paris, France). Project: Implementing biomarkers and high-throughput screening to identify and evaluate repurposing drugs for treating SELENON-RM.

Impact Statement: The goal of this project is to deliver readouts and biomarkers usable in a clinical setting with minimally or non-invasive procedures as well as to enable high-throughput screening of potential treatments for SELENON-RM.

Funders: Giving Strength and Cure CMD


Principal Investigator: Ester Zito, PhD – Instituto di Ricerche Farmacologiche Mario Negri (Milano, Italy).

Project: Inhibition of the endoplasmic reticulum oxidase ERO1 alpha as a strategy to treat

SELENON-RM.

Impact Statement: This project will use novel stress inhibitors of the endoplasmic reticulum to treat SELENON-RM in ad hoc mice models. Suppressing the muscle defect in mice treated with these inhibitors may provide a rationale for human clinical trials in SELENON-RM.

Funders: Giving Strength and Cure CMD Six additional really great projects still need funding. Interested in helping? Email us at donate@curecmd.org, and visit us online to learn more about our research strategy, funding portfolio, and advocacy partners.

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