Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.

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Abstrakt

Tytuł:: Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.
Autorzy:: Haber G; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Conway KM; Department of Epidemiology, University of Iowa, Iowa City, Iowa, USA.
Paramsothy P; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Roy A; Department of Mathematics and Statistics, University of Maryland, Baltimore County, Baltimore, Maryland, USA.
Rogers H; Center for Drug Evaluation and Research, Food & Drug Administration, Silver Spring, Maryland, USA.
Ling X; Center for Drug Evaluation and Research, Food & Drug Administration, Silver Spring, Maryland, USA.
Kozauer N; Center for Drug Evaluation and Research, Food & Drug Administration, Silver Spring, Maryland, USA.
Street N; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Romitti PA; Department of Epidemiology, University of Iowa, Iowa City, Iowa, USA.
Fox DJ; Bureau of Environmental and Occupational Epidemiology, New York State Department of Health, Albany, New York, USA.
Phan HC; Department of Pediatrics, Division of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Matthews D; Department of Physical Medicine and Rehabilitation, Children's Hospital Colorado, Aurora, Colorado, USA.
Ciafaloni E; Department of Neurology, University of Rochester, Rochester, New York, USA.
Oleszek J; Department of Physical Medicine and Rehabilitation, Children's Hospital Colorado, Aurora, Colorado, USA.
James KA; School of Public Health, University of Colorado, Boulder, Colorado, USA.
Galindo M; Department of Pediatrics, University of Arizona, Tucson, Arizona, USA.
Whitehead N; Research Triangle Institute International, Research Triangle Park, North Carolina, USA.
Johnson N; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA.
Butterfield RJ; Department of Pediatrics and Neurology, University of Utah, Salt Lake City, Utah, USA.
Pandya S; Department of Neurology, University of Rochester, Rochester, New York, USA.
Venkatesh S; Department of Neurology, University of South Carolina, Columbia, South Carolina, USA.
Bhattaram VA; Center for Drug Evaluation and Research, Food & Drug Administration, Silver Spring, Maryland, USA.
Źródło:: Muscle & nerve [Muscle Nerve] 2021 Feb; Vol. 63 (2), pp. 181-191. Date of Electronic Publication: 2020 Nov 17.
Typ publikacji:: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
Język:: English
Imprint Name(s):: Publication: <2005-> : Hoboken, NJ : John Wiley & Sons
Original Publication: New York, NY : John Wiley & Sons
MeSH Terms:: Mobility Limitation*
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Muscular Dystrophy, Duchenne/*physiopathology
Adolescent ; Adrenal Cortex Hormones/therapeutic use ; Child ; Dependent Ambulation ; Disease Progression ; Exons ; Gene Duplication ; Humans ; Male ; Muscular Dystrophy, Duchenne/drug therapy ; Point Mutation ; Proportional Hazards Models ; Sequence Deletion ; Wheelchairs
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Grant Information:: K08 NS097631 United States NS NINDS NIH HHS; U01 DD000187 United States DD NCBDD CDC HHS; U01 DD001247 United States DD NCBDD CDC HHS; U01DD001119 United States ACL ACL HHS; U01DD001108 United States ACL ACL HHS; CC999999 United States ImCDC Intramural CDC HHS; R01 FD006071 United States FD FDA HHS; U01 DD000191 United States DD NCBDD CDC HHS; U01 DD001248 United States DD NCBDD CDC HHS; U01DD001117 United States ACL ACL HHS; U01 DD001117 United States DD NCBDD CDC HHS; U01 DD000392 United States DD NCBDD CDC HHS; U01 DD001126 United States DD NCBDD CDC HHS; U01 DD001123 United States DD NCBDD CDC HHS; R01 NS104010 United States NS NINDS NIH HHS; U01DD001116 United States ACL ACL HHS; U01DD001123 United States ACL ACL HHS; U01 DD000189 United States DD NCBDD CDC HHS; U01 DD001116 United States DD NCBDD CDC HHS; U01DD001126 United States ACL ACL HHS; K23 NS091511 United States NS NINDS NIH HHS; U01 DD001119 United States DD NCBDD CDC HHS; U01 DD001108 United States DD NCBDD CDC HHS; U01 DD001255 United States DD NCBDD CDC HHS; U01 DD000190 United States DD NCBDD CDC HHS
Contributed Indexing:: Keywords: Duchenne muscular dystrophy; MD STARnet; exon skipping; loss of ambulation; natural history study
Substance Nomenclature:: 0 (Adrenal Cortex Hormones)
0 (DMD protein, human)
0 (Dystrophin)
Entry Date(s):: Date Created: 20201105 Date Completed: 20210315 Latest Revision: 20221005
Update Code:: 20240105
PubMed Central ID:: PMC8094042
DOI:: 10.1002/mus.27113
PMID:: 33150975
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Background: Quantifying associations between genetic mutations and loss of ambulation (LoA) among males diagnosed with childhood-onset dystrophinopathy is important for understanding variation in disease progression and may be useful in clinical trial design.
Methods: Genetic and clinical data from the Muscular Dystrophy Surveillance, Tracking, and Research Network for 358 males born and diagnosed from 1982 to 2011 were analyzed. LoA was defined as the age at which independent ambulation ceased. Genetic mutations were defined by overall type (deletion/duplication/point mutation) and among deletions, those amenable to exon-skipping therapy (exons 8, 20, 44-46, 51-53) and another group. Cox proportional hazards regression modeling was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs).
Results: Mutation type did not predict time to LoA. Controlling for corticosteroids, Exons 8 (HR = 0.22; 95% CI = 0.08, 0.63) and 44 (HR = 0.30; 95% CI = 0.12, 0.78) were associated with delayed LoA compared to other exon deletions.
Conclusions: Delayed LoA in males with mutations amenable to exon-skipping therapy is consistent with previous studies. These findings suggest that clinical trials including exon 8 and 44 skippable males should consider mutation information prior to randomization.
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