Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy

  • Published on 03/29/2024
  •  Reading time: 5 min.

Hiroyuki Awano MD, PhD 1, Yoshinori Nambu MD 2, Chieko Itoh BHS 3, Akihiro Kida 3, Tetsushi Yamamoto PhD 4, Tomoko Lee MD, PhD 5, Yasuhiro Takeshima MD, PhD 5, Kandai Nozu MD, PhD 2, Masafumi Matsuo MD, PhD 6

1 Research Initiative Center, Organization for Research Initiative and Promotion Tottori University Yonago Japan
2 Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan
3 Division of Rehabilitation Medicine Kobe University Hospital Kobe Japan
4 Nagahama Institute of Bio‐Science and Technology Nagahama Japan
5 Department of Pediatrics Hyogo Medical University Nishinomiya Japan
6 Faculty of Health Sciences Kobe Tokiwa University Kobe Japan

Abstract

Introduction/Aims Duchenne muscular dystrophy (DMD) presents with skeletal muscle weakness, followed by cardiorespiratory involvement. The need for longitudinal data regarding DMD that could serve as a control for determining treatment efficacy in clinical trials has increased notably. The present study examined the longitudinal data of Japanese DMD patients collectively and assessed individual patients with pathogenic variants eligible for exon‐skipping therapy.
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