Funding Continues in a Challenging Year
Lakewood, CA. August 19, 2020 -- Cure CMD is pleased to announce the recipients of its 2020 Grant Awards, which will provide each project $50,000 in funding to support the advancement of research in congenital muscular dystrophy (CMD). Over 12 years, Cure CMD has supported more than $3M in research, making a significant impact in the field of CMD research. While the funding challenges associated with COVID-19 remain quite real, Cure CMD is committed to prioritizing the continuation of research, even in uncertain times.
Grants have been awarded in five subtypes: Dystroglycanopathy, Collagen VI, LAMA2, LMNA, and SELENON (SEPN1). The projects range from a study in mouse models, to new projects in gene therapy, to an extended grant focused on genetic modifiers. A full list of grants is below.
“The process was extremely competitive this year,” says Cure CMD’s Scientific Director, Dr. Gustavo Dziewczapolski. “In previous cycles we have had perhaps a dozen applicants. This year, we received a record-breaking 30 applications, which is thrilling because it indicates an expanded interest in CMD research -- something we at Cure CMD have continued to cultivate over the last decade.
“Two of the grant awards are for researchers collaborating from different institutions. Collaborations like these are critically important in rare disorders like CMD, to ensure that the best minds are making progress toward treatments, regardless of where they are based,” remarks Dr. Dziewczapolski.
Rachel Alvarez, Cure CMD Executive Director, shares Dr. Dziewczapolski’s excitement. “Despite the uncertain times we are living in with COVID19, our Board of Directors and leadership are committed to prioritizing grant awards and continuing the push toward clinical trials for all CMD subtypes,” she comments. “We exist for two reasons: to advance research in CMD, and to support affected individuals and families with tools and education to improve their quality of life. Funding research serves our mission and ultimate goal to find treatments.”
While institutional grants and major donor gifts have provided funding to cover a significant portion of Cure CMD’s general operations and specific project funding for the next 15 months, this particular grant cycle was made possible by contributions from hundreds of individuals in the CMD community. We are also incredibly grateful for our 12-year partnership with Irish foundation, SAM (Struggle Against Muscular Dystrophy), who made funding a second LAMA2 grant possible this year.
ABOUT CURE CMD
Cure CMD was founded in 2008 to advance research for treatments and a cure for congenital muscular dystrophy (CMD) and, through engagement and support of the affected community, to improve the lives of those living with CMD. To date, the organization has supported more than $3 million in research, launched an international patient registry with more than 3,000 affected individuals from 86 countries, assisted with genetic diagnosis, and connected more than 2,800 affected individuals and their families to a supportive, helpful community.
FULL LIST OF AWARDED GRANTS, CURE CMD GRANT CYCLE 2020-2022
Learn more about Cure CMD's research strategy and funding portfolio
Dystroglycanopathy
Principal Investigator: Kevin Wright
Institution: Oregon Health & Science University
Title: “Synaptic defects in a mouse model of dystroglycanopathy”
Objective: This project aims to increase our understanding of dystroglycan function at synapses (the connections between neurons in the brain) and provide insight into the mechanisms that are the basis for cognitive deficits in affected individuals with dystroglycanopathy. Researchers will also evaluate the potential for rescuing synaptic defects using AAV-based gene therapy.
Collagen VI
Principal Investigator: Jeanette Erdmann
Additional Investigator: Franziska Haarich
Institution: University of Lübeck & UKSH
Title: “First steps towards an RNA-based therapy for COL6-MD using CRISPR interference”
Objective: This study will evaluate the unique characteristics of the gene copy (allele) carrying some of the more common Collagen VI dominant mutations, in order to target and inhibit the mutant allele and spare the unaffected allele. The team will evaluate a novel treatment strategy, called CRISPR interference (CRISPRi), to achieve suppression of the faulty gene. CRISPRi is a type of CRISPR technology, which may be safer by acting on RNA rather than directly on DNA.
LAMA2
Principal Investigator: Dwi Kemaladewi
Additional Investigator: Annie Infancia Arockiaraj
Institution: University of Pittsburgh
Title: “Therapeutic genetics and disease modeling in LAMA2-CMD”
Objective: This study will build on previous work with Dr. Ronni Cohn where the use of CRISPR activation technology was described to increase the body’s natural production of a related protein, LAMA1, compensating for a lack of the protein, LAMA2. This project will further evaluate the potential of LAMA1 upregulation in both mouse and patient-derived cell models, and will explore the understudied neuropathy associated with LAMA2-CMD, with the goal of bringing us closer to developing a mutation-independent treatment.
LAMA2
Principal Investigator: (1) Francesco Muntoni
Additional Investigators: (1)Veronica Pini, (2)Elisabeth Busch-Nentwich
Institutions: (1) University College London (2) Cambridge University
Title: “In vivo modulation of modifier genes for LAMA2-RD” (Grant Renewal)
Objective: This follow-up study will take results from the team’s 2018-2020 funded project to further expand our understanding of the role that other genes, called modifier genes, may play in an affected individual’s presentation and symptoms. Discovery of modifier genes that impact LAMA2-CMD may identify novel targets for therapeutic development.
LMNA
Principal Investigator: Anne Bertrand
Additional Investigator: Gisele Bonne
Institution: Sorbonne Université - Inserm UMRS 974, Institut de Myologie
Title: “Optimization of a gene therapy for striated muscle laminopathy”
Objective: Previous work using mice that model human disease revealed that LMNA-CMD is caused by both the toxic expression of the mutant form of the protein, Lamin A/C, and decreased production of the unaffected protein. Therefore, a beneficial therapeutic approach will need to both reduce the production of the mutant protein and restore the non-mutated protein levels. There have been promising preliminary results using genetic tools to “destroy and replace” the mutant protein. The goal of this project is to optimize the gene therapy strategy in order to correct LMNA mutations at the mRNA level, and increase the effectiveness of targeting affected striated muscle.
SELENON (SEPN1)
Principal Investigators: (1) Ana Ferreiro & (2) Ester Zito
Institutions: (1) INSERM, University Paris Diderot/CNRS (2) Istituto di Ricerche Farmacologiche Mario Negri, Milan
Title: “Biomarkers and therapeutic targets of SELENON-related myopathy”
Objective: This team of researchers will build on previously funded projects to develop mouse- and patient-derived cell models for use in drug screening and treatment testing. They will further explore the potential of biomarkers (objective measures of biological processes) and defective metabolic pathways as tools for diagnostics and treatment development. Additionally, the team will investigate whether the defective metabolic pathways in SELENON-related myopathy are the cause of muscle fatigue, and test specific drugs to address this issue. The success of this study would advance our path toward clinical trials by addressing the need for diagnostic biomarkers and quantitative outcome measures, and validate new disease model systems to facilitate drug screening and testing of pathophysiology-based drug treatments.
For more information, please contact:
Terry Selucky, Grants & PR terry.selucky@curecmd.org