Abstract
To assess the utility of online patient self-report outcomes in a rare disease, we attempted to observe the effects of corticosteroids in delaying age at fulltime wheelchair use in Duchenne muscular dystrophy (DMD) using data from 1,057 males from DuchenneConnect, an online registry. Data collected were compared to prior natural history data in regard to age at diagnosis, mutation spectrum, and age at loss of ambulation. Because registrants reported differences in steroid and other medication usage, as well as age and ambulation status, we could explore these data for correlations with age at loss of ambulation. Using multivariate analysis, current steroid usage was the most significant and largest independent predictor of improved wheelchair-free survival. Thus, these online self-report data were sufficient to retrospectively observe that current steroid use by patients with DMD is associated with a delay in loss of ambulation. Comparing commonly used steroid drugs, deflazacort prolonged ambulation longer than prednisone (median 14 years and 13 years, respectively). Further, use of Vitamin D and Coenzyme Q10, insurance status, and age at diagnosis after 4 years were also significant, but smaller, independent predictors of longer wheelchair-free survival. Nine other common supplements were also individually tested but had lower study power. This study demonstrates the utility of DuchenneConnect data to observe therapeutic differences, and highlights needs for improvement in quality and quantity of patient-report data, which may allow exploration of drug/therapeutic practice combinations impractical to study in clinical trial settings. Further, with the low barrier to participation, we anticipate substantial growth in the dataset in the coming years.
Highlights
The study of rare diseases by traditional methods, such as clinical trials or natural history studies, is limited by the challenges and costs of recruiting an adequate sample
General characteristics of DuchenneConnect: The DuchenneConnect Registry sample analyzed here is comparable to other large natural history studies for Duchenne muscular dystrophy (DMD)
The distribution of mutations was similar among the 384 subjects who had already progressed to fulltime wheelchair use, and is consistent with other large registries of DMD mutations [22, 23]
Summary
The study of rare diseases by traditional methods, such as clinical trials or natural history studies, is limited by the challenges and costs of recruiting an adequate sample. Self-report registry-based approaches have important potential advantages including the ability to cost-effectively grow the study sample, but at the risk of potential reductions in data quality [1]. One disease for which patient registries have the potential to impact our understanding of treatment is Duchenne muscular dystrophy (DMD; OMIM #310200). DMD is the most common form of progressive childhood-onset muscular dystrophy, affecting 1.3–1.8 per 10,000 males between the ages of 5–25 years in a recent US population survey [2]. Progressive muscle weakness leads to inability to ambulate in the second decade of life and death, usually from cardiorespiratory failure. The diagnosis of DMD is currently clearly and readily established in routine practice
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