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.
Bibliographical noteFunding Information:
Researchers at the CINRG network sites that contributed to this project: University of Pittsburgh: Hoda Abdel-Hamid, Kathryn Brown, Karen Karnevas; Children?s National Medical Center: Sally Evans, Rachel Walega, Lauren Carruthers, Katherine Kundrat, Bemnete Tadesse, Alynn Toles; Washington University: Alyssa Sonsoucie, Betsy Malkus, Catherine Siener, Rebecca Oschwald; Centro Clinico Nemo Hospital: Marco Gualandris, Cristina Grandi, Luca Mauro, Alessandra Di Bari, Elisa Pavesi; Newcastle University: Meredith James, Anna Mayhew, Robert Muni, Dionne Reynolds; Hershey Medical Center: Aiesha Ahmed, Anne Haulman, Victoria Kern, Heidi Runk, Matthew Bankert; University of Tennessee: Ana Phillips, Robert Henegar; Alberta Children?s Hospital: Angela Chiu, Karla Sanchez; Duke University Medical Center: Laura Case, Julie Coats, Karen Cornett, Andrea Hartzell; Lurie Children?s Hospital: Colleen Blomgren, Carolyn Hyson, Theresa Oswald, Duncan Schulte, Lauren Webb; University of California, Davis: Candace Aguilar, Erica Goude, Alina Nicorici; Children?s Healthcare of Atlanta: Han Phan, Kimberly Carvell, Saadia Khizer; University of Florida: Manuela Corti, Samantha Norman; University of Minnesota: Molly Stark, Natalya Alassy,; Carolinas Medical Center: Mohammed Sanjak, Anja Little, Brittany J. Neelands; University of Texas Southwestern Medical Center: Holly Lawrence, Lisa LaMotte, Leslie Nelson.
- Becker muscular dystrophy
- clinical features
PubMed: MeSH publication types
- Journal Article
- Research Support, N.I.H., Extramural
- Research Support, Non-U.S. Gov't