The CINRG Becker Natural History Study: Baseline characteristics

Paula R. Clemens, Gabriela Niizawa, Jia Feng, Julaine Florence, Andrea Smith DʼAlessandro, Lauren P. Morgenroth, Ksenija Gorni, Michela Guglieri, Anne Connolly, Matthew Wicklund, Tulio Bertorini, Jean K. Mah, Mathula Thangarajh, Edward Smith, Nancy Kuntz, Craig M. McDonald, Erik K. Henricson, Saila Upadhyayula, Barry Byrne, Georgios ManousakisAmy Harper, Elena Bravver, Susan Iannaccone, Christopher Spurney, Avital Cnaan, Heather Gordish-Dressman

Research output: Contribution to journalArticle

Abstract

We performed an observational, natural history study of males with in-frame dystrophin gene deletions causing Becker muscular dystrophy (BMD). A prospective natural history study collected longitudinal medical, strength, and timed function assessments. Eighty-three participants with genetically confirmed BMD were enrolled (age range 5.6–75.4 years). Lower extremity function and the percentage of participants who retained ambulation declined across the age span. The largest single group of participants had in-frame deletions that corresponded to an out-of-frame deletion treated with an exon 45 skip to restore the reading frame. This group of 54 participants showed similarities in baseline motor functional assessments when compared to the group of all others in the study. A prospective natural history cohort with in-frame dystrophin gene deletions offers the potential to contribute to clinical trial readiness for BMD and to analyze therapeutic benefit of exon skipping for Duchenne muscular dystrophy.

Original languageEnglish (US)
Pages (from-to)369-376
Number of pages8
JournalMuscle and Nerve
Volume62
Issue number3
DOIs
StatePublished - Sep 1 2020

Keywords

  • Becker muscular dystrophy
  • clinical features
  • dystrophinopathy
  • musculoskeletal

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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  • Cite this

    Clemens, P. R., Niizawa, G., Feng, J., Florence, J., DʼAlessandro, A. S., Morgenroth, L. P., Gorni, K., Guglieri, M., Connolly, A., Wicklund, M., Bertorini, T., Mah, J. K., Thangarajh, M., Smith, E., Kuntz, N., McDonald, C. M., Henricson, E. K., Upadhyayula, S., Byrne, B., ... Gordish-Dressman, H. (2020). The CINRG Becker Natural History Study: Baseline characteristics. Muscle and Nerve, 62(3), 369-376. https://doi.org/10.1002/mus.27011