Congenital Muscular Dystrophies are a group of rare, highly disabling neuromuscular diseases with a reduced life expectancy. Over the last 10 years, the work of the research team led by Dr. C. Jiménez, from the Sant Joan de Déu University Hospital in Barcelona, has focused on collagen VI related-diseases (COL6-RD), which it is a common subtype of congenital muscular dystrophy for which there is currently no cure.
Advances in gene editing and genetic therapies are revolutionizing the scene for rare disease patients. However, the percentage of pre-clinical studies that lead to effective new therapies approved by regulatory agencies is very low. The general objective of this proposal is to contribute to narrowing this gap through the systematic investigation of advanced therapies and the development of in vitro and in vivo physiological models, as well as precise diagnostic tools.
The project objectives are:
- Investigate the efficacy of advanced therapies (gene editing using CRISPR/Cas9 or antisense oligonucleotides) to correct mutations in collagen VI genes, in fibroblasts obtained from patients.
- Develop more physiological in vitro and in vivo models for COL6-RD to be used in the pre-clinical stages of future clinical trials, and to further investigate the mechanism of the disease. These will include 2D and 3D organotypic models and a new mouse model.
- Diagnosis and characterization of patients with collagen VI CMD. Using previously established protocols and biomarkers, we will continue to offer a diagnosis tool based on the study of collagen VI in fibroblasts from patients with suspected collagen VI CMD, at both domestic and internationally level.
HSJD Sant Joan de Déu University Hospital in Barcelona
- Jimenez Mallebrera, Cecilia: Research Group Coordinator.
- Nascimento Osorio, Andres: Principal Investigator-Coordinator of the NRM Pathology Unit
- Natera-Benito, Daniel: Principal Investigator
- Badosa, M. Carmen: Research Assistant.
Duration of the project and funding:
Duration: 2 years (July 2021-July 2023)
Total investment: 91,200 €
Contributions committed by Fundación Noelia:
- July 2021: € 45,600 Proof of transfer
- July 2022: € 45,600