Recently, several new registries for individuals with various forms of congenital muscle disease have been started. These registries create databases in order to improve awareness, research effectiveness, and communication within disease population regarding research and treatment. Participation is voluntary and confidentiality and privacy of information will be protected.
The Congenital Muscle Disease International Registry (CMDIR), a new registry for those with congenital muscle disorders, recently began collecting demographic and disease-related information. This registry focuses on those with congenital muscular dystrophies and myasthenic syndromes, including the limb girdle spectrum disorders. Unlike many registries, administrators of this database encourage individuals and families with a known history of undiagnosed congenital muscle disease to register: These individuals and families can receive assistance in pursuing genetic testing from the CMDIR, as well.
The goals of this registry include improving understanding, increasing awareness, and promoting research of congenital muscle disorder, with an ultimate goal to improve treatment and care. Registered individuals will also receive information that helps them to improve personal care and support as well, including a newsletter and notice regarding clinical trials and new treatments as they become available. Currently, the CMDIR allows individuals to register in several languages, including Spanish, Chinese, Portuguese, and English. The site notes that new languages will soon be available.
Individuals with limb-girdle muscular dystrophy (LGMD) and type 1C form of congenital muscular dystrophy (MDC1C) [both diseases caused by mutations in the gene for fukutin-related protein (FKRP)] may also consider registering for the Global FKRP Patient Registry. (The rarer conditions of muscle-eye brain disease and Walker Warburg Syndrome, also caused by mutations in the FKRP gene, are also included in this registry.) This international registry was started in 2011 and is part of the TREAT-NMD Neuromuscular Network. Goals of this registry include directing individuals to appropriate clinical trials, increasing knowledge regarding these diseases, and improving equality of access to care.
Those with a diagnosis of limb-girdle muscular dystrophy type 2A (LGMD2A), caused by a deficiency of the calpain 3 protein, should also consider registering in another new global registry. Called the LGMD2A Patient Registry, this registry is overseen by the Coalition to Cure Calpain 3. Organizers of this database wish to improve knowledge regarding the prevalence of this disease, increase awareness, and assist researchers. Available in English and German, additional languages will be available soon.
Congenital Muscle Disease International Registry (CMDIR) website, (2012). Retrieved from http://www.cmdir.org/ on April 5, 2013.
LGMDA2A Patient Registry website, (n.d.). Retrieved from http://www.lgmd2a.org/ on April 5, 2013.
TREAT-NMD Global FKRP Registry website, (n.d.). Retrieved from https://www.fkrp-registry.org/ on April 5, 2013.
Wahl, M., (2011). Global CMD1C/LGMD2I Registry Opens. Quest. Retrieved from http://quest.mda.org/news/global-cmd1clgmd2i-registry-opens on April 5, 2013.
Wahl, M., (2013). LGMDA2A Registry Seeks Participants. Quest. Retrieved from http://quest.mda.org/news/lgmd2a-registry-seeks-participants on April 5, 2013.
Wahl, M., (2013). Registry Seeks Participants with Congenital Muscle Disorders. Quest. Retrieved from http://quest.mda.org/news/registry-seeks-participants-congenital-muscle-disorders?utm_source=Monthly+Summary+-+March+2013&utm_campaign=Monthly+Summary+4+4+13&utm_medium=email on April 5, 2013.