Internship Presentations

Curation of clinical trials for Duchenne Muscular Dystrophy (DMD)

Bin Hai

Mentor: Dr. Simina Boca, Innovation Center for Biomedical Informatics, Department of Oncology and Department of Biostatistics, Bioinformatics and Biomathematics, Georgetown University

Date/Time: August 27, 2019 at 2pm

Location: Room 1300, Harris Building

The X-linked disorder Duchenne muscular dystrophy (DMD) is a severe condition that usually causes muscle weakness in boys and worsens quickly after initial symptoms at around the age of four, leading to eventual loss of ambulation and death in early adulthood. It is caused by mutations in the dystrophin gene DMD, which is the largest gene in the human genome, composed of 79 exons. There are numerous investigational treatments for DMD in various stages of development. For example, exon-skipping therapies may eventually be able to treat around 83% of the genetic errors related to Duchenne muscular dystrophy. It can be overwhelming for researchers, clinicians, and patients to stay up-to-date with all the ongoing drug development in the DMD space, given the various exon skipping therapies, other gene therapies, and therapies related to cardiac or respiratory involvement. Therefore, we embarked on building a web interface to allow users to look at curated data from DMD-related clinical trials.

        We proceeded by downloading 258 studies from on June 28th, 2019, using ”condition=Duchenne Muscular Dystrophy,” as individual XML files. Various fields including intervention type, therapies, allocation type, and targeted participants were extracted from the files using the R programming language and structured into a “data frame.” Following this, a web interface was designed using the R/Shiny approach. Search options include study type, condition, and therapy.

Summer 2019