A comprehensive database of Duchenne and Becker muscular dystrophy patients in Children's Hospital of Fudan University

摘要

Background China is one of the countries that have the largest number of patients suffering from Duchenne and Becker muscular dystrophy (DMD/BMD). Although the building of international DMD/BMD databases has laid a foundation for clinical drug development and clinical trials, it has not yet been carried out in China. In this study, a modified registry form of Remudy was applied to 229 DMD/BMD patients in order to establish a comprehensive database, which will lay the groundwork for international cooperation. Methods A total of 229 DMD/BMD patients diagnosed by genetic testing or muscle biopsy admitted in Children's Hospital of Fudan University (CHFU) during the period of August 2011 to December 2013 were enrolled in this study. The data included sex, age, age at diagnosis, geographic distribution of patients, DMD gene mutation types, family history, walking capability, cardiac and respiratory function, steroid treatment and rehabilitation intervention. Results There were 194 DMD and 35 BMD male patients who were diagnosed at the age of 0-18 years, and among them, most patients?were diagnosed at the age of > 3-4 (16.59%, 38/229) and > 7-8 (14.85%, 34/229) years. Exon deletion was the most frequent genetic mutations for DMD/BMD [65.46% (127/194) and 74.29% (26/35)], respectively. Patients with a family history accounted for 23.14% (53/229). The rate of DMD registrants losing walking capability was 17.53% (34/194), and all the BMD registrants were able to walk. Cardiac functions were examined in 46.29% (106/229) DMD/BMD boys and respiratory functions were examined in 17.90% (41/229) DMD/BMD boys. The proportion of DMD patients receiving prednisone with dosage of 0.75 mg/(kg·d) was 26.29% (51/194). Conclusions This database describes in detail the genotype, clinical manifestation, diagnosis and treatment and rehabilitation status of 229 DMD/BMD patients in China. The database not only provides comprehensive information for DMD/BMD patient management, but also will make significant contribution to the development of clinical trials, prospective therapeutic research and better management of DMD/BMD patients and families in China.