Only a handful of people in the entire world understand the underlying disease mechanisms of LMNA-related congenital muscular dystrophy. However, thanks to an award from the Patient-Centered Outcomes Research Institute (PCORI) and supporting funds from the Andres Marcio Foundation, the world’s leading LMNA-CMD experts were in the same room in Paris, France from October 24-25, 2016, to share information and the latest research and discoveries.
The experts at this third annual, Paris-based conference not only break ground in their field, they are paving the way for other scientists to develop new treatments for more common diseases.
Leading the intimate scientific meeting was Dr. Gisele Bonne, who identified the first disease causing gene mutation in LMNA in 1999. LMNA-CMD not only affects the muscles, but the heart as well—in fact, cardiac complications are the leading cause of death in affected children and adults with this disease.
Pediatric cardiologist Dr. Georgia Brugada (also attending the meeting) implants an extremely sensitive heart monitor into her young patients, which picks up their rhythms and transmits them to her lab. Already, this device has saved at least two lives.
In addition to the researchers and scientists, several family members of affected individuals attended. PCORI’s mission is to help people make informed healthcare decisions and improve healthcare delivery and outcomes by producing and promoting high-integrity, evidence-based information that comes from research guided by patients, caregivers, and the broader health community—so having the participation of individuals who are directly affected is critical to the success of Cure CMD’s project.
Said one parent of an affected child, “I'm very impressed and touched to see that many professionals are working hard to find answers, a treatment and ultimately a cure to our condition. I enjoyed meeting and learning from the scientists and other parents, as well as sharing my experiences with [my son]."
Dr. Gustavo Dziewczapolski, Cure CMD Scientific Director, who also attended the conference, said, “It’s rare that a scientific conference is held annually for most diseases, much less a condition as rare as LMNA-CMD. We are grateful for the PCORI award which has allowed us to support this conference, for our partnership with the Andres Marcio Foundation, and for the LMNA experts who work year-round to build momentum for treatments and a cure.”
Cure CMD was founded in 2008 to advance research for treatments and a cure for the congenital muscular dystrophies. Cure CMD also works to improve the lives of those living with CMD through engagement and support of the CMD community. To date, the organization has co-funded more than $2 million in research, has helped launch effective animal models, a 2,200 member patient registry, and connected more than 1,000 affected individuals and their families to a supportive and engaged community. Visit us at curecmd.org
or on Facebook at facebook.com/CureCMD
for more information.