EVALUATION AND DEVELOPMENT OF PERSONALIZED THERAPIES FOR COLLAGEN VI-RELATED MYOPATHIES
DESCRIPTION OF THE PROJECT
So far, several gene therapies for Collagen VI-related Myophaties have been described, most of which involve the use of RNA molecules or the CRISPR technique. However, a system is needed to determine the effect of any of these therapies at the cellular or tissue level in order to ascertain their potential to become an actual treatment for patients.
This project addresses both aspects. On the one hand, it seeks to develop new therapies to correct the mutation or its effect on the muscle, using approaches based on (a) RNA molecules or (b) a variant of the CRISPR technique. It will target mutations that have not been yet addressed by research so far, expanding the reach of the therapeutic toolbox to new patients.
On the other hand, it will set up a method for assessing the effect of any of these therapies that will serve to determine the extent to which they can effectively restore collagen VI production. It is based on a platform that Dr. Arechavala’s team is already familiar with, and which will be optimized to evaluate collagen 6 production in muscle fibroblasts, allowing for the quantification of the amount of collagen produced by the cells before and after the therapy.
Funding Period:3 years (2022- march 2026)
Amount: 126.254,17€ €
Contributions made by Noelia Foundation:
- November 2022: 37,216.53€ (Proof of payment)
- April 2024: 44,518.82€ (Proof of payment)
- March 2025: 44.518’82€ (Pending)
Research location:
Biocruces Bizkaia Health Research Institute.
Main researcher: Dra. Virginia Arechavala-Gomeza.