Ullrich CMD study

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 

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