CLOSING THE THERAPEUTIC GAP FOR CONGENITAL MUSCULAR DYSTROPHY
Improving the efficacy, delivery and safety of CRISPR/Cas9 and antisense oligonucleotide-based therapies
PROJECT DESCRIPTION
This project aims to take an almost giant step forward in bringing a new gene therapy to those affected by DMC-Col 6, an extraordinary advance in a pathology for which there is no cure or treatment.
A project led by Dr. Jiménez, from the research centre of the Hospital Sant Juan de Diós in Barcelona, with a planned duration of 2 years, and based on the work carried out over the last two years, in relation to the development of therapies to correct mutations that cause CMD-Col6 with the aim of finding a cure.
So far, thanks to funding from Fundación Noelia, among others, this research team has managed to fine-tune the CRISPR technique, to the point of correcting the mutation in patient cells (López-Márquez et al., 2022; Castroflorio et al., 2022). We can therefore say that, at laboratory level (in vitro), they have managed to cure the disease.
However, this has only been achieved at laboratory level and what we want is for it to work in patients as well. To do this, we must first ensure that when it is administered, it reaches where we want it to go and once there, it does what it is supposed to do. Therefore, what this project encompasses is:
- Ensure that all types of disease-causing mutations can be corrected, without making a mistake.
- Find a form of administration that is effective without degrading and losing efficacy before it reaches the muscle.
- Guarantee that it is a safe therapy for people (this part is planned in collaboration with the Hospital Clinic of Barcelona).
Furthermore, in order to carry out these tests, which will be carried out on mice, we need a mouse that has the mutation, and therefore suffers from the disease, to be able to see the effect of the therapy. We already have the mouse, thanks to the work of the last two years, but before starting the tests, we need to study it to ensure that it will be able to predict what will happen when the therapy is administered to the person.
Thus, the project consists of 3 main parts:
- To study in detail the characteristics of the muscle of these mice with the disease to ensure that the results obtained can be transferred to humans.
- Ensure that the therapy once administered reaches the mouse muscle, where Col6 is made.
- To study the effect of this therapy on the mouse muscle and whether, as expected, it is able to reverse the effect of the mutation.
Duration of the project:
2 years (January 2023-December 2024)
Total investment
31.374€
Contributions made by Fundación Noelia:
30 November 2022: €31,374 (Proof of payment)
Place where the activity takes place:
Research Institute of the Hospital Sant Juan de Diós in Barcelona
