Rare Disease Report

Conference on Collagen-VI Congenital Muscular Dystrophy Convenes Scientists from Around the World

APRIL 17, 2017
Terry Selucky, Cure CMD
On February 24-25 this year, 50 scientists and clinicians from nine countries around the world—all experts in Collagen-VI (COL6) congenital muscular dystrophy (CMD)—met in Arlington, VA to share the latest discoveries and updates about their groundbreaking work. This two-day conference is part of a Cure CMD-hosted conference series, made possible from a Eugene Washington Engagement Award from the Patient-Centered Outcomes Research Institute (PCORI) and multiple industry sponsors.
Six separate sessions over the course of two days were educational and thought-provoking, ranging from a fundamental review of the Biology and Biochemistry of COL6, an introduction to the Expansion of Clinical Phenotypes and Genotypes of COL6, the Mechanisms of COL6 Deficiency and Dysfunction in Cellular and Animal Models, Natural History and Clinical Outcome Measures, Therapies in Preclinical Models, and Clinical Trials in COL6-Related Dystrophies.
Designed for and by scientists and clinicians, the conference focused heavily on the research that, while it may feel like small steps, is actually pushing forward CMD knowledge faster than ever before. With new therapies available such as CRISPR-Cas9, leaps forward in animal models, and a growing database of information directly from COL6-affected individuals, researchers are able to gain traction in their work. Additionally, meetings such as this, where experts from around the world gather to discuss discoveries and action plans moving forward, are vital to creating the kind of community that is collaborative and builds upon the momentum started by continued research.
A surprising aspect of the conference is that many scientists had never met an individual with the very disease they’ve spent a career researching. Fortunately, 19 members of the CMD community, including seven affected individuals and 12 family members, attended this February meeting. These individuals helped illuminate for experts new quality-of-life aspects of COL6 CMD that demand attention, such as managing contractures, using a cough assist machine, and therapies and medicines to lessen pain.
“We stand at the precipice of incredible breakthroughs in CMD research, and so the timing for this meeting couldn’t have been better,” says Cure CMD Scientific Director, Gustavo Dziewczapolski. “Scientists were engaged and pleased with what they learned not only from each other, but from the affected individuals and family members present.”
Says Rachel Alvarez, COL6 affected individual and Director of Operations for Cure CMD, “It was incredible to participate in this meeting dedicated to finding treatments for Collagen VI-related disorders, and to witness the dialogue and planned collaborations among the experts in attendance. Affected individuals and families came away with a better understanding of the current challenges in research, reasonable expectations for interventions and cures, and were made to feel a vital part of the discussion by sharing our stories and quality-of-life priorities. It is not the typical format to include patient community representatives at scientific meetings, but everyone there felt that our participation added an important aspect to the meeting.”
Cure CMD’s 2016-2017 Cure CMD Conference Series includes four scientific meetings, each focused on a different CMD subtype (LMNA, COL6, LAMA2, and SEPN1), with a final culminating 2017 CMD Scientific and Family Conference, which invites affected individuals and their families/caregivers, scientists, clinicians, researchers, representatives from pharmaceutical companies, industry professionals, and medical journalists. The goals of the conference series are to 1) educate and connect affected individuals and families with each other and with CMD experts, 2) increase knowledge and collaboration among early-career and established scientists and researchers; 3) raise public awareness about, and build advocacy around, CMD, and 4) build momentum toward CMD-related clinical trials.  Please visit www.curecmd.org for more information.

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