Rare Disease Report

Scientists Gathered for Conference on LAMA2 Congenital Muscular Dystrophy

SEPTEMBER 21, 2017
Terry Selucky, Cure CMD
In the third of five congenital muscular dystrophy (CMD)-related conferences held in 2016-2017, Cure CMD held the International Conference on LAMA2-CMD on March 28-29 this year. Forty-seven individuals from countries around the globe—most of whom are world-renowned experts in LAMA2 CMD—met in Arlington, VA to share the latest discoveries and updates about their groundbreaking work. This two-day conference was 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.

LAMA2-CMD, or Laminin Alpha 2-Deficient congenital muscular dystrophy, appears like other CMDs, with the early-onset form of the diseases showing up in children as hypotonia, poor spontaneous movement, and a weak cry associated with respiratory failure. As with other CMD subtypes, feeding difficulties and pulmonary challenges will often occur as well. Thus, the task of the experts at the March 28 conference was not only to share the latest research toward a cure for LAMA2, but also to explore what smaller changes would make a significant impact on the lives of affected individuals. 

Over the course of two days, sessions included Biology of LAMA2, Pre-Clinical Research which included updates on the innovative CRISPR/Cas9 gene editing approach, Natural History and Outcome Measures, Clinical Trials (such as the current Hyperinsuflation for Preserving Pulmonary Function and the Omigapil phase 1 trial), and a final session where families and experts engaged in a dialogue about LAMA2.

Because of multiple clinical trials, LAMA2 is perhaps the furthest along in research of all the CMDs. Omigapil, which has been fast-tracked by the FDA to be used in clinical trials for CMD, was at first tested in clinical trials for its ability to treat Parkinson’s disease. It proved to be ineffective for this use, but shows promise in mouse models for its ability to ameliorate many symptoms of CMD.

While the two, intense meeting days were invaluable for researchers to convene and discuss their work, the presence of one affected individual and five family members made it all the more meaningful. The intimate setting allowed for conversations about how LAMA2 affects people in their day-to-day lives. One woman revealed that at eight years old, she wanted to be a ballerina. Now, one of her biggest goals was to figure out how to remain independent as the effects of LAMA2 increased in her body. Like individuals affected by other CMDs, one of the biggest concerns was muscle contractures: How can they be managed? How can they be halted, and prevented? These questions gave experts new work to take home with them.

Ultimately, what the affected individuals at the LAMA2 scientific meeting agreed on is that everyone needs someone to remind them that they’re not alone. They need emotional support, and their families need emotional support.

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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