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. 2020 Sep;62(3):369-376.
doi: 10.1002/mus.27011. Epub 2020 Jul 24.

The CINRG Becker Natural History Study: Baseline characteristics

Paula R Clemens  1 , Gabriela Niizawa  2 , Jia Feng  3 , Julaine Florence  4 , Andrea Smith DʼAlessandro  2 , Lauren P Morgenroth  5 , Ksenija Gorni  6 , Michela Guglieri  7 , Anne Connolly  4 , Matthew Wicklund  8 , Tulio Bertorini  9 , Jean K Mah  10 , Mathula Thangarajh  3 , Edward Smith  11 , Nancy Kuntz  12 , Craig M McDonald  13 , Erik K Henricson  13 , Saila Upadhyayula  14 , Barry Byrne  15 , Georgios Manousakis  16 , Amy Harper  17 , Elena Bravver  17 , Susan Iannaccone  18 , Christopher Spurney  3 , Avital Cnaan  3 , Heather Gordish-Dressman  3 ; CINRG BNHS Investigators
Affiliations

The CINRG Becker Natural History Study: Baseline characteristics

Paula R Clemens et al. Muscle Nerve. 2020 Sep.

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.

Keywords: Becker muscular dystrophy; clinical features; dystrophinopathy; musculoskeletal.

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Conflict of interest statement

Disclosure of Conflicts of Interest: None of the authors has any conflict of interest to disclose.

References

    1. Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies. Am J Hum Genet 1991; 49:54–67. - PMC - PubMed
    1. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne’s or Becker’s muscular dystrophy. N Engl J Med 1988; 318:1363–1368. - PubMed
    1. Bushby KM and Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J Neurol 1993; 240:98–104. - PubMed
    1. Yokota T, Lu QL, Partridge T, Kobayashi M, Nakamura A, Takeda S, et al. Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol 2009; 65:667–76. - PMC - PubMed
    1. Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 2013; 74:637–47. - PubMed

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