New advance in the research of Congenital Muscular Dystrophy due to Collagen Deficiency VI (CMD COL6)

The Fundación Noelia has funded an innovative study led by researcher Virginia Arechavala-Gomeza, which takes a step forward in the diagnosis and development of treatments for Congenital Muscular Dystrophy due to Collagen Deficiency VI (CMD COL6). Researchers have created a new method (called Collablot), which allows both the quantity and structure of collagen VI to be accurately measured in patient cells.

Through this method, they have discovered that not only the amount of collagen VI is important, but also its organization within the extracellular matrix. With Collablot, they have observed that patients with COL6 CMD present greater disorganization in collagen VI compared to healthy people. In addition, they have validated this method to evaluate the effectiveness of potential treatments, demonstrating that certain therapies can improve the organization of collagen in the treated cells.

What does this advance mean for families?

Improvements in diagnosis: Until now, traditional methods could not accurately measure the quantity or quality of collagen VI. The Collablot offers a more objective way to evaluate the disease at a molecular level.

Evaluation of new therapies: This method allows evaluating the effect of the treatments that are developed, offering a method to quantify the effect clearly, which will help accelerate the development of effective therapies.

Contributes to a better understanding of the disease: It not only measures the amount of collagen, but also its organization, which could explain why some patients present more severe symptoms than others.

Thanks to the support of the Fundación Noelia, this advance represents another step towards the development of a treatment for COL6 CMD. We continue to move forward together in the fight against this disease.

All complete information: https://www.biorxiv.org/content/10.1101/2024.12.06.627141v1