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- W2756451567 abstract "The rare disease registry has been recognized as an important tool of clinical research, as the TREAT-NMD global dystrophinopathy patient registry, harmonized with over 30 national registries, has accelerated the international clinical development. Remudy was established in 2009 to run the Japanese national dystrophinopathy registry in collaboration with neuromuscular experts, patient advocacy groups, and the TREAT-NMD. To present current status and data analysis of Japanese dystrophinopathy national registry and discuss its utility for clinical research. Following the charter for TREAT-NMD patient database/registry, remudy took patient-reported system, genetic and clinical curators, and information committee to judge enquiry from third parties. We analyzed and presented clinical and genetic data, and the age of loss of ambulation and death. By February 2016, total registrants were 1,607: 1,485 completed and 122 during process. Clinical classifications were DMD: 1,158, IMD: 36, BMD: 291, and, in addition, female dystrophinopathy: 8. Remudy contributed to feasibility studies and trial recruitments with TREAT-NMD or domestic groups. We presented analysis of loss of ambulation by severity classification, age, and steroid treatment, and the association between major gene mutations and loss of ambulation by the end of October, 2016. In addition, there were 59 death cases, average age was 26.2 ± 9.7. Our results provided useful information for the clinical practice and research. In spite of the results that, by age of DMD every 10 years, the age of loss of ambulation in the 2000s was delayed compared to before, bias due to the delay in updating the information could influence the result. It might be a limitation of the patient self-reported registry. The national dystrophinopathy registry could still demonstrate its utility in clinical research and care standardization." @default.
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- W2756451567 date "2017-10-01" @default.
- W2756451567 modified "2023-10-14" @default.
- W2756451567 title "Data analysis of dystrophinopathy national registry in Japan" @default.
- W2756451567 doi "https://doi.org/10.1016/j.nmd.2017.06.134" @default.
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