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Research project in the USA

Fundación Noelia, for children suffering Congenital Muscular Dystrophy (CMD) caused by deficit in collagen VI, with NIH (NINDS) National Institute of Health from United Estates have signed a collaboration agreement to get further with the investigation about CMD caused by deficit in collagen VI.

Letter Hospital NIH (National Inst of Neurological Disorders and Stroke).
Letter agreement between the Noelia Foundation and Dr. Walter Koroshets.

Fundación Noelia first objective was to financially support the investigation that Dr. Carsten Bönnemann team from NIH were doing under the project named “Development of Selective Mutation silencing as a Therapy for the Collagen VI Related Dystrophies”. This project has 2 years duration and a budget of 150.000$. It is a project that hopefully could be the way to the cure of this illness, is based on genetic modifications and it started thanks to the input of 75.000$ from Fundación Noelia last November.

Prestigious researchers on the theme have supervised this project, like: Annemieke Aartsma-Rus (Duchenne muscular Dystrophy exon skip group leader); Dione Kobayashi (scientific advisor for different biotechnological organizations, she has been involved in numerous drug development collaborations with biotech and pharmaceutical company partners); Edward Kaye (Chief executive of Sarepta therapeutics); Cecilia Jiménez Mallebrera (Hospital Sant Joan de Déu de Barcelona investigation coordinator an expertise on collagen VI). All of them valued the viability and the possible application of the results of this project. This project has collaboration from some relevant companies that are working with different systems to help treat genetic neuromuscular disease (Alnylam, Integrated DNA Technologies, Synthena).

The project is based on gene silencing; this technique could be the way to cure this kind of dystrophy it would need to be using some oligonucleotide synthesis to make sure the collagen VI was produce as normal; with this it could cancel the effects on dominant negative mutation cases and the protein could work correctly.

This technique would help, as well, on autosomal dominant negative mutation cases that alter the collagen synthesis and cause the most severe phenotypes of this disease.
The main objective of this project is to make sure the “normal” copy of the collagen VI produced would be present in the fibrous tissues and doing his function in them.
There are some previous studies that prove that with this technique the results are positive in fibroblast cell culture and the scientific basis of the project is robust.

To be able to develop this as a therapy, first of all it’s important to find the best oligonucleotide sequence and medication to try it on studies on mice. It would be tried only on the one muscle affected to start and after, if successful, using the whole mice as it would be used on patients.


Left: Xavi Ferré, Fundación Noelia secretary, in the middle: Dr. Bönnemann carsten, main investigator; and on the right: Noelia Canela, Fundación Noelia president.

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