The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry. Academic Article uri icon


  • Patient registries remove barriers to performing research by assembling patient cohorts and data in a systematic, efficient, and proactive manner. Consequently, registries are a valuable strategy for facilitating research and scientific discovery. Registries for rare diseases are arguably even more valuable since there is difficulty in assembling cohorts of adequate size for study. Recently, the NIH Office of Rare Diseases Research created a rare disease registry Standard to facilitate research across multiple registries. We implemented the Standard for the Oculopharyngeal Muscular Dystrophy patient registry created at the University of New Mexico Health Sciences Center. We performed a data element analysis for each Common Data Element defined in the Standard. Problems included the use of previous HL7 versions, non-structured data types, and a recent update to the Standard. Overall, the Standard is an excellent first step toward standardizing patient registries to facilitate work on broader questions and promote novel interdisciplinary collaborations.

publication date

  • 2013