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Fundación Noelia participates in a new edition of CureCMD’s Science & Family Meeting on Congenital Muscular Dystrophies

Last week, delegates of Fundación Noelia attended the 2022 edition of the SciFam Meeting 2022 by CureCMD in Nashville, Tennessee (USA).

At the event, leading members of the research community presented their results and discussed with fellow scientists about the novel approaches to treating these conditions. Among others, we enjoyed the participation of Dr. Carsten Bonnemann and his team from the NIH, Veronique Bolduc, and Astrid Brull; Dr. Rhegan Foley, also from the NIH, who led the discussion on patient registry and clinical trials readiness; Dr. Arístides López-Márquez, from Dr. Cecilia Jiménez-Mallebrera’s team at the Hospital de Sant Joan de Déu in Barcelona; Dr. Valerie Allamand, from the Institut de Myologie in France; or Dr. Paolo Bonaldo from the University of Padua in Italy.

The program was especially interesting for our community because there were numerous presentations on Col6-CMD research, but also on how other neuromuscular conditions are addressed, which can contribute to open new doors for collagen VI research.

In this regard, the CRISPR technique, which is the focus of Dr. Jiménez-Mallebrera’s work under Fundación Noelia’s sponsorship, turned up frequently in the discussions. This supports our belief that CRISPR is a key area where considerable progress will occur in the near future and that may provide real treatment options for patients with neuromuscular diseases.

Also, several presentations were delivered on drug repurposing, which aims at identifying drugs that may help mitigate the effects of the mutation in the muscle. By screening large libraries of well-known drugs, several research groups are working to identify candidates that have a positive effect on the dystrophic muscle and, thus, ca be used, along with gene therapy, to alleviate the symptoms of the disease.

Regarding collagen VI, specifically, researchers whom Fundación Noelia sponsors presented the results of ongoing projects, which range from the success attained at blocking the expression of the mutant copy of the gene, to the development of vectors to deliver the treatment to the muscle.

However, we are not yet ready for the clinical phase. As Dr. Rhegan Foley explained, there are three elements that are key to successfully engage in clinical trials. First, we need to know the genetic causes of the disease, which, in our case, are the mutations in the COL6A1, A2 or A3 genes. Secondly, we need to know the natural history of the disease, that is, its progression over time in the absence of treatment, so we can determine how the evolution changes when a new therapy is applied. And, finally, we need simple and clear outcome measures to determine if the therapy is having any effect, such, for instance, a biomarker that can be tested in blood or urine.

And here, there is still a lot to be done, because each disease is different and must be investigated individually. For this reason, our delegates already discussed with researchers about starting a new project to identify a specific biomarker for Col6-CMD. This way, we hope to be ready to enter the clinical phase as soon as any one of the therapies becomes available for in vivo testing.

On a different matter, we also met with other associations with whom we share the objective of funding Col6-CMD research. We contacted our counterparts in Turkey and Italy, opened communication lines between our partner in Brazil, Fundação Theodoro, and local researchers, and shared strategies with the Million Dollar Bike Ride team from the US, one of the major fundraising organizations for Col6-CMD in this country, with whom we already collaborate.

In summary, we come back very satisfied to see how our efforts turn into positive results, and how science is moving ahead to bring our patients a little closer to a treatment. However, each new phase becomes increasingly expensive, so we call out to everyone’s collaboration in raising funds. Only by continuously supporting research will we see our dream come true.


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