Iranian Registry of Duchenne and Becker Muscular Dystrophies: Characterization and Preliminary Data

Abstract

Duchenne (DMD) and Becker muscular dystrophies (BMD) are rare neuromuscular disorders caused by mutations in the dystrophin gene and failure in its protein production. The absence or the reduced expression of dystrophin render muscles prone to damage, including the cardiac and respiratory muscles with reduced life expectancy. Careful planning for clinical trials will require a sufficient number of confirmed cases to meet the inclusion criteria. National registries for rare disorders serve as an essential tool for personalized medicines or mutation-specific trials to facilitate patient recruitment. The Iranian Registry of DMD and BMD (IRDAB) collects detailed molecular data of Iranian DMD/BMD patients and carriers according to the TREAT-NMD Global Neuromuscular Network guidelines. As of March 2020, five hundred and twenty-two cases are registered. The registry incorporates multi-level web and database technologies, where registrants can access their data and compare it to the cumulative data. The registry’s objectives are to recruit eligible patients for clinical trials and provide sufficient data for the national program of disease surveillance and social planning. Furthermore, the registry provides accurate epidemiological data, phenotype/genotype correlation, and evaluate the standards of care in Iran.