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 Manousakis; Amy Harper; Elena Bravver; Susan Iannaccone; Christopher Spurney; Avital Cnaan; Heather Gordish-Dressman

doi:10.1002/mus.27011

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

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

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 language	English (US)
Pages (from-to)	369-376
Number of pages	8
Journal	Muscle and Nerve
Volume	62
Issue number	3
DOIs	https://doi.org/10.1002/mus.27011
State	Published - Sep 1 2020

Funding

Researchers at the CINRG network sites that contributed to this project: University of Pittsburgh: Hoda Abdel-Hamid, Kathryn Brown, Karen Karnevas; Childrenʼs 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 Childrenʼs Hospital: Angela Chiu, Karla Sanchez; Duke University Medical Center: Laura Case, Julie Coats, Karen Cornett, Andrea Hartzell; Lurie Childrenʼs Hospital: Colleen Blomgren, Carolyn Hyson, Theresa Oswald, Duncan Schulte, Lauren Webb; University of California, Davis: Candace Aguilar, Erica Goude, Alina Nicorici; Childrenʼs 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. Muscular Dystrophy Association, Grant/Award Number: travel grant; National Institute of Arthritis and Musculoskeletal and Skin Diseases, Grant/Award Number: P50 AR060836‐01 Funding information

Keywords

Becker muscular dystrophy
clinical features
dystrophinopathy
musculoskeletal

ASJC Scopus subject areas

Clinical Neurology
Physiology (medical)
Cellular and Molecular Neuroscience
Physiology

Access to Document

10.1002/mus.27011

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

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title = "The CINRG Becker Natural History Study: Baseline characteristics",

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",

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

note = "Funding Information: Researchers at the CINRG network sites that contributed to this project: University of Pittsburgh: Hoda Abdel-Hamid, Kathryn Brown, Karen Karnevas; Childrenʼs 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 Childrenʼs Hospital: Angela Chiu, Karla Sanchez; Duke University Medical Center: Laura Case, Julie Coats, Karen Cornett, Andrea Hartzell; Lurie Childrenʼs Hospital: Colleen Blomgren, Carolyn Hyson, Theresa Oswald, Duncan Schulte, Lauren Webb; University of California, Davis: Candace Aguilar, Erica Goude, Alina Nicorici; Childrenʼs 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. Funding Information: Muscular Dystrophy Association, Grant/Award Number: travel grant; National Institute of Arthritis and Musculoskeletal and Skin Diseases, Grant/Award Number: P50 AR060836‐01 Funding information Publisher Copyright: {\textcopyright} 2020 Wiley Periodicals, Inc.",

year = "2020",

month = sep,

day = "1",

doi = "10.1002/mus.27011",

language = "English (US)",

volume = "62",

pages = "369--376",

journal = "Muscle and Nerve",

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Clemens, PR, Niizawa, G, Feng, J, Florence, J, DʼAlessandro, AS, Morgenroth, LP, Gorni, K, Guglieri, M, Connolly, A, Wicklund, M, Bertorini, T, Mah, JK, Thangarajh, M, Smith, E, Kuntz, N, McDonald, CM, Henricson, EK, Upadhyayula, S, Byrne, B, Manousakis, G, Harper, A, Bravver, E, Iannaccone, S, Spurney, C, Cnaan, A & Gordish-Dressman, H 2020, 'The CINRG Becker Natural History Study: Baseline characteristics', Muscle and Nerve, vol. 62, no. 3, pp. 369-376. https://doi.org/10.1002/mus.27011

TY - JOUR

T1 - The CINRG Becker Natural History Study

T2 - Baseline characteristics

AU - Clemens, Paula R.

AU - Niizawa, Gabriela

AU - Feng, Jia

AU - Florence, Julaine

AU - DʼAlessandro, Andrea Smith

AU - Morgenroth, Lauren P.

AU - Gorni, Ksenija

AU - Guglieri, Michela

AU - Connolly, Anne

AU - Wicklund, Matthew

AU - Bertorini, Tulio

AU - Mah, Jean K.

AU - Thangarajh, Mathula

AU - Smith, Edward

AU - Kuntz, Nancy

AU - McDonald, Craig M.

AU - Henricson, Erik K.

AU - Upadhyayula, Saila

AU - Byrne, Barry

AU - Manousakis, Georgios

AU - Harper, Amy

AU - Bravver, Elena

AU - Iannaccone, Susan

AU - Spurney, Christopher

AU - Cnaan, Avital

AU - Gordish-Dressman, Heather

N1 - Funding Information: Researchers at the CINRG network sites that contributed to this project: University of Pittsburgh: Hoda Abdel-Hamid, Kathryn Brown, Karen Karnevas; Childrenʼs 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 Childrenʼs Hospital: Angela Chiu, Karla Sanchez; Duke University Medical Center: Laura Case, Julie Coats, Karen Cornett, Andrea Hartzell; Lurie Childrenʼs Hospital: Colleen Blomgren, Carolyn Hyson, Theresa Oswald, Duncan Schulte, Lauren Webb; University of California, Davis: Candace Aguilar, Erica Goude, Alina Nicorici; Childrenʼs 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. Funding Information: Muscular Dystrophy Association, Grant/Award Number: travel grant; National Institute of Arthritis and Musculoskeletal and Skin Diseases, Grant/Award Number: P50 AR060836‐01 Funding information Publisher Copyright: © 2020 Wiley Periodicals, Inc.

PY - 2020/9/1

Y1 - 2020/9/1

N2 - 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.

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KW - clinical features

KW - dystrophinopathy

KW - musculoskeletal

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The CINRG Becker Natural History Study: Baseline characteristics

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ASJC Scopus subject areas

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