News Release: Research
Aug. 31, 2009
International Database for Congenital Muscular Dystrophy Patients Offers Hope for Medical Trials
Emory University School of Medicine will coordinate data collection and provide genetic counseling and referral services
For thousands of American children suffering from congenital muscular dystrophy, medical research trials are often beyond reach. Congenital muscular dystrophy (CMD) represents several rare forms of muscular dystrophy and often children are misdiagnosed for years due to a lack of familiarity of CMDs by physicians.
Congenital muscular dystrophy represents a group of diseases that cause muscle weakness at birth. As technology and our understanding of these diseases progresses, the CMDs are emerging from being a poorly understood subset of muscular dystrophy into a dizzying array of distinct diseases that share the onset of muscle weakness in infancy or childhood. A child with the disease may have various neurological or physical impairments. Some children never gain the ability to walk while others lose the ability as they grow older.
On Aug. 14, Cure CMD launched the first and only CMD International Registry (CMDIR) to collect patients' contact information, disease information and health survey responses. Families who participate in the registry will receive assistance from board certified genetic counselors to answer questions. The Department of Human Genetics at Emory University School of Medicine will provide registry coordination, data review, and information and referral services to registrants.
The goal of the CMDIR will be to increase physician awareness, facilitate diagnosis and connect affected individuals with research trials and future therapies. Given the rarity of congenital muscular dystrophy, it is vital that this initiative takes place on a global level. The CMDIR will connect with global gene-specific registry initiatives established by internationally focused organizations including TREAT-NMD, a network aiming to advance diagnosis, care and treatment for people with neuromuscular diseases around the world.
"Having a patient registry for all people with a diagnosis of CMD is a huge step forward in trial readiness for these rare disorders," says Kate Bushby, one of the coordinators of TREAT-NMD. "It will help to raise awareness and promote confidence in the field, and will allow patients and their families to feel connected to the research community. At TREAT-NMD we are delighted to be working with Cure CMD on this project,"
"We are excited about the opportunity to leverage our expertise in patient registry coordination and genetic counseling to the benefit of the congenital muscular dystrophy community", says Ken Loud, a certified genetic counselor and director of Genetic Counseling Services at Emory.
"Until now, researchers have been reluctant to pursue congenital muscular dystrophy trials since there's been no systematic way to identify on a national or international level those children with the disease," says Anne Rutkowski, MD, co-founder of Cure CMD and parent of a daughter with the disease. "Building a patient registry will enable us to create a critical mass to participate in clinical trials."
Rutkowski has personal experience with the issues of diagnosis and care. It took over eight years of diligent research through many medical venues for Rutkowski to finally achieve a diagnosis for her 11-year-old daughter, Maia. Rutkowski has worked hard with Maia so that now she has learned to walk and communicate. The work continues through Cure CMD to find new therapies or a cure for her daughter and the thousands of affected individuals throughout the world.
The CMDIR will serve all those with a diagnosis of CMD regardless of whether their mutation is known or unknown. Emory Genetics will assist people with obtaining genetic confirmation of disease, where possible. People with limb girdle muscular dystrophy that fall on the CMD gene spectrum, Bethlem myopathy and the dystroglycanopathy forms of limb girdle will also be included in the CMDIR.
Cure CMD's mission is to bring research, treatments and in the future, a cure for congenital muscular dystrophies. Cure CMD will achieve this mission by working with dedicated parent, government and research advocates to find and fund high potential research and clinical trials. The nonprofit was founded in 2008 by Rich Cloud, chairman. Anne Rutkowski, MD, vice chairman and Patrick May, CFO. For more information, go to http://curecmd.org.