This study by Prof. Muntoni at the Dubowitz Center in England followed 13 patients with UCMD to look at key care issues, predictors of disease severity and genotype-phenotype.
This study illustrates the importance of participating in natural disease progression studies that are pivotal in defining a disease spectrum, identifying predictors of disease severity, delineating patient subgroups within a disease spectrum and looking at key medical interventions that affect quality of life and prognosis. Though a natural disease progression study does not track a response to a drug; key medical interventions such as timing of scoliosis surgery, gastrostomy tube placement and breathing support can be identified with recommendations for improving care for people with a particular CMD subtype. Natural history studies also called longitudinal disease studies can either be retrospective or prospective. A retrospective natural history study uses patient charts to look back over time to identify disease course, progression and variables that affect both. A prospective natural history study uses predefined data points or variables and follows them over time through clinic visits and patient surveys. Examples of a predefined data points are: degree of contractures at various joints, degree of scoliosis, functional vital capacity (FVC). This study will need to be validated with a greater number of people with UCMD. To participate in an ongoing Collagen VI natural disease progression study (Ullrich and Bethlem), see below.
To read more about this study, click here