Muscular Dystrophy Canada (MDC) is pleased to announce two Collagen 6- related dystrophy (Col6-RD) research projects will be funded thanks to generous donors, and a partnership with Cure CMD (Congenital Muscular Dystrophy).
Collagen 6- related dystrophies (Col6-RD) are genetic types of muscular dystrophies that include Bethlem myopathy, Ullrich congenital muscular dystrophy and intermediate forms (Limb-girdle muscular dystrophy R22/D2). They are characterized by muscle weakness that can begin in infancy and can affect mobility, breathing, eating and activities of daily living.
Currently there is no cure for Col6-RD and knowledge on how the disorder develops is limited. Research is the essential next step towards therapy development.
“Strong partnerships are integral to fostering innovative research. We are pleased to partner with Cure CMD to build research capacity, fill gaps in knowledge and double our investment in high-quality research on Collagen-6 research,” said Dr. Homira Osman, Vice President, Research and Public Policy, Muscular Dystrophy Canada.
She continued, “many emerging therapies for inherited neuromuscular disorders are gene-specific, so it is important to develop relevant models of Col6 to test future therapies before they can go to clinical trials, as well as test new treatment approaches. These research projects do exactly that – they are translational research projects that have the potential to lead to new approaches, new thinking, inform future clinical trials, and promote transferrable insights for other muscular dystrophies.”
MDC’s supporters are thrilled to see these two research initiatives move forward.
“Donations for research are important for a better future. We must invest in research until we find remedies to eradicate these diseases. Research is the solution,” said Patrick Girard, father to Nicolas who is affected by Bethlem Myopathy.
The Williams / Weppler family added, “Thank you to all the generous donors who are the driving force behind this ground-breaking research. This is indeed a wonderful jumpstart towards making wishes come true – something we never imagined. Your donations that fund this research give Kolton (our 11-year-old grandson/son who is affected by Bethlem Myopathy), our family and all those affected so much hope. We are forever grateful!“
The CMD-focused projects funded for 2022-2024 are:
- Project: Further steps toward an RNA-based therapy for COL6-RD.
- Principal Investigator: Jeanette Erdmann, Ph.D. – University of Lübeck (Lübeck, Germany)
- Impact of Research: In recent years, there has been rapid development of gene therapy tools in genetic disorders. With this project the researchers are taking the first of many steps towards establishing a potential therapy using the novel CRISPRoff technology to target dominant glycine changes causing COL6-RD.
- Project: Advanced human myo-fibrogenic 3D models for COL6 disease modeling and therapy development.
- Principal Investigator: Francesco Saverio Tedesco, MD, Ph.D. – University College London (London, United Kingdom).
- Impact of Research: How changes in Col6 gene lead to the various symptoms seen in Col6-RD is still a poorly understood which limits amongst others clinical trial development and identification of potential drug targets. This study will develop 3D muscles created from patient-derived iPSC- myogenic and fibrogenic cells, a critical step to further understanding this disorder as well as establishing genetically relevant models to test future COL6-RD therapies.
Additional information about CMD research can be found at: curecmd.org.
To learn more or ask questions about these research projects, email us at: research@muscle.ca
If you are interested in funding research, you can donate online by clicking the button on the left of your screen or call 1-800-567-2873.
