Full Title: Development of a Computable Phenotype For Duchenne Muscular Dystrophy
PI: Rebecca Willcocks, Ph.D.
PI Institution: University of Florida
Citizen Scientist: Terri Ellsworth
Study Staff: Shannon Alford

Funding Source: Internal Funding

Abstract: Duchenne muscular dystrophy (DMD) affects 1/3500 to 1/6000 boys, and causes progressive muscle weakness in childhood and early mortality. Boys and men with DMD are at increased risk of osteoporosis and fracture in both the vertebrae and long bones, which causes pain and increases disability. There is a pressing need for evidence around which to base guidelines for management of bone health in patients with DMD.

In this project we propose to build a foundation to examine the comparative effectiveness of current interventions to treat bone fragility in boys with DMD. We will take advantage of data acquired in the OneFlorida Data Trust, the UF ImagingDMD Database, DuchenneConnect and the Pedsnet Data Warehouse to develop and validate a computable phenotype for DMD, to characterize bone health problems and treatments in this population, and to perform a comparative effectiveness study of treatments for bone fragility in DMD. The initial phase of the research will use UFHealth data to develop and validate a computable phenotype for DMD. Because International Classification of Diseases codes for progressive muscular dystrophy are not specific to DMD, the phenotype will include age, sex, and lab or prescription information to optimize the sensitivity and specificity of the algorithm.

This observational study will provide a valuable platform for future interventional studies in boys with DMD related to bone fragility. In the future, we will use PCORnet data to document current clinical care practices surrounding bone in DMD and to compare the outcomes of boys receiving different bone treatments. This work will provide a foundation for future interventional research to attempt to reduce the co-morbidities and increased pain and disability caused by poor bone heath in DMD.