Key result
Exon deletions are the most frequent DMD/BMD mutations, with ~10% eligible for exon 51 skipping trials.
Population
688 male Japanese patients with genetically confirmed Duchenne (n=583) and Becker (n=105) muscular dystrophy.
Design
Cohort
Authors
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Japanese DMD/BMD registry aids trial recruitment; leaves open whether such data can guide therapy selection without prospective validation.
Observational (n=688)
Yes
The Remudy registry successfully characterizes the Japanese DMD/BMD population, facilitating future clinical trial enrollment and standardization of care.
Nakamura et al. (2013) conducted an observational in Duchenne and Becker muscular dystrophy (n=688). Duchenne and Becker muscular dystrophy was evaluated on Genetic mutations and clinical characteristics. In a national registry of 688 Japanese patients with Duchenne and Becker muscular dystrophy, exon deletions were the most frequent mutations, and 9.8% were eligible for exon 51 skipping trials.
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