Collagen related muscle diseases

Mutations in the Col6 genes (COL6A1, COL6A2 and COL6A3) cause a clinically and genetically heterogeneous group of rare diseases (Bethlem myopathy, BM; Ullrich congenital muscular dystrophy, UCMD; intermediate phenotypes), which are collectively known as the COL6-related muscle diseases (COL6-MDs). The Global Registry for COL6-related muscle disease allows secure capture and storage of data from individuals affected with a COL6-MD and from the medical professionals in charge of their care. The primary objectives of the registry are to: contribute to trial readiness of COL6-MDs, allowing identification of genetically well characterised cohorts for participation in research studies and clinical trials; add to the understanding of disease natural history and prevalence; assist doctors and other health professionals by providing them with up-to-date information on managing COL6-MDs, to help them deliver better standards of care for their patients; stimulate industry interest in the COL6-MDs by demonstrating the availability of clinician validated data to support future trials and post marketing surveillance; provide individuals with COL6-MD with up to date summaries of relevant current research and news via the website and newsletters.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research