January 11, 2020, 16:40 - 17:15
Cure CMD’s mission is to advance research for treatments and a cure for the Congenital Muscular Dystrophies. Cure CMD was founded in 2008 by three parents whose children were affected by Congenital Muscular Dystrophy.
It wasn’t until the mid-1990s that researchers found that deficiency of a protein, then called merosin and now more often called laminin 211, seemed to be the cause of many cases of CMD. A few years later, others noticed that a lack of another protein, collagen VI, caused a different type of CMD. Still, these deficiencies did not cover all instances of CMD. Today, it is recognized that the five main subtypes of CMD involve proteins in four locations of the muscle cell: The extracellular matrix proteins (Collagen VI, LAMA2); the glycosyltransferase proteins: proteins that place sugar motifs on the a-dystroglycan (Dystroglycanopathies); intracellular protein deficiency (SEPN1); and intranuclear intermediate filament deficiency (LMNA).
CMDs are a clinically and genetically heterogeneous group of neuromuscular disorders that typically present at birth or in early infancy. Progressive skeletal muscle weakness and hypotonia are the major clinical manifestations and, as with other muscular dystrophies, the CMDs share characteristic biopsy findings such as necrosis, regenerating fibers, and fiber size variability. A person with CMD may have various neurological or physical impairments. Some never gain the ability to walk, while others lose the ability as they grow older. Several disease-related complications include feeding difficulties leading to poor nutrition, respiratory insufficiency, heart complications, cognitive impairment, joint contractures and scoliosis.
Like other muscular dystrophies, no cure exists for CMD. Current therapies are directed mostly at supportive care; however, recent advances in biotechnology and increased knowledge of the pathophysiology underlying the various CMD types have helped identify potential therapeutic strategies directed at genetic, molecular, and biochemical pathways involved in these disorders.
Through close collaboration with scientists, doctors, dedicated volunteers, involved families, other foundations and generous donors, Cure CMD has achieved significant impact in its first decade as a nonprofit organization: launched two clinical trials; completed a five year natural history study with the NIH to identify clinical trial endpoints; grew the Congenital Muscle Disease International Registry (CMDIR) to about 3,000 registrants worldwide with associated tissue banks, funded over $2 million in research grants and organized over 10 scientific and affected family meetings. We will describe tools and programs Cure CMD has to offer to accelerate “bench-to-bedside” therapies.
Learning Objectives:
1. Describe the clinically and genetically heterogeneous group of Congenital Muscular Dystrophies.
2. Discuss potential therapeutic strategies for these disorders.
3. Learn about the pivotal role a patient-centered organization as Cure CMD plays to move forward and translate emerging therapeutics into clinical practice.