2017 CMD Scientific Conference Series
In May 2016, the Patient-Centered Outcomes Research Institute
(PCORI) awarded funds to Cure CMD, a nonprofit, patient advocacy organization focused on advancing research for treatments and a cure for the congenital muscular dystrophies (CMD). The $250,000 PCORI award allowed Cure CMD to hold five conferences over
the course of one year, leveraging the momentum built through in-person and online meetings to usher the community toward a cure for the CMDs.
Links to conference agendas, photos, and videos:
5th International Workshop for Glycosylation Defects in Muscular Dystrophies
Cure CMD Scientific and Family Conference (Jul 2017)
Cure CMD’s 2017 SciFam Conference brought together more world-renowned CMD scientists, researchers, and clinicians into one place than ever before. About 80 CMD experts and 300 affected individuals and their family members were in attendance. The community reviewed the latest research, discoveries, and management techniques. Many new friendships and connections were made between affected individuals and their families (many whom had never met another person with CMD). The conference was live streamed and recording of sessions are available to the right.
LMNA Consortium Meeting (Oct 2016)
Attended by approximately 25 researchers and clinicians and 10 community representatives, the 3rd Annual LMNA Consortium Meeting, hosted by Dr. Gisele Bonne of the Institute of Myology in Paris, France, focused on the latest progress made in basic and translational research around LMNA mutations. Topics such as the LMNA Retrospective Natural History Study, the Prospective Cardiac Study, current promising leads on Gene Therapy and CRISPR/CAS9 were presented. Research priorities for the coming year were set.
International Conference on Collagen VI Disorders (Feb 2017)
The International Conference on Collagen-6 Related Disorders (COL6-RD) had 56 attendees representing scientists, clinicians, and patients from across the globe. The agenda alternated between basic and clinical research topics including basic biology and biochemistry, function, preclinical models, treatments, and clinical trials. The weekend ended with a patient session, which was designed to allow patients a forum for asking and answering questions as well as sharing their biggest concerns and desires for research.
International Conference on LAMA2 CMD
The International Conference on LAMA2 Disorders had 42 attendees including scientists, clinicians, and patients from across the globe. Day 1 focused on the basic biology and preclinical treatment of disease and day 2 focused on clinical phenotype and outcome measures, standard of care, and clinical trials. The conference ended with a patient session, which was designed to allow patients a forum for asking and answering questions as well as sharing their biggest concerns and desires for research.
International Conference on SEPN1-Related Myopathies (May 2017)
The International Conference on SEPN1 Disorders had 37 attendees including scientists, clinicians, and patients from across the globe. Day 1 included sessions on defining SEPN1 myopathies, Selenoprotein N biology, and Selenoprotein N regulation of SERCA. Day 2 included sessions on industry lessons for drug development, medical aspects of SEPN1-myopathy and endpoint development, and therapies and clinical trial development. Both days involved patient families in presenting, and asking and answering questions.
5th International Workshop for Glycosylation Defects in Muscular Dystrophies (Apr 2017)
Since its beginning in 2008, the International Workshop for Glycosylation Defects in Muscular Dystrophies has provided an avenue to bring together top physicians and scientists from around the world in an effort to identify mechanisms and targets for treating glycosylation related muscular dystrophies. This bi-annual workshop has evolved from a primary focus on disease mechanisms and possible targets to a broader focus on advancing clinical trials, treatments and patient endpoints. New insights into the mechanism(s) behind dystroglycanopathies has led to the current identification of 18 genes involved in the glycosylation of α-DG. This progress opens the door for new treatment targets and will continue to be a point of discussion.