TheCINRGBecker Natural History Study: Baseline characteristics

被引：14

作者：

Clemens, Paula R. ^{[1
,2
]}

Niizawa, Gabriela ^{[2
]}

Feng, Jia ^{[3
]}

Florence, Julaine ^{[4
]}

D'Alessandro, Andrea Smith ^{[2
]}

Morgenroth, Lauren P. ^{[5
]}

Gorni, Ksenija ^{[6
]}

Guglieri, Michela ^{[7
]}

Connolly, Anne ^{[4
]}

Wicklund, Matthew ^{[8
]}

Bertorini, Tulio ^{[9
]}

Mah, Jean K. ^{[10
]}

Thangarajh, Mathula ^{[3
]}

Smith, Edward ^{[11
]}

Kuntz, Nancy ^{[12
]}

McDonald, Craig M. ^{[13
]}

Henricson, Erik K. ^{[13
]}

Upadhyayula, Saila ^{[14
]}

Byrne, Barry ^{[15
]}

Manousakis, Georgios ^{[16
]}

Harper, Amy ^{[17
]}

Bravver, Elena ^{[17
]}

Iannaccone, Susan ^{[18
]}

Spurney, Christopher ^{[3
]}

Cnaan, Avital ^{[3
]}

Gordish-Dressman, Heather ^{[3
]}

机构：

[1] Dept Vet Affairs Med Ctr, Pittsburgh, PA USA

[2] Univ Pittsburgh, Sch Med, Room A506 Scaife Hall,3550 Terrace St, Pittsburgh, PA 15261 USA

[3] Childrens Natl Med Ctr, Washington, DC 20010 USA

[4] Washington Univ, St Louis, MO 63110 USA

[5] TRiNDS, Pittsburgh, PA USA

[6] Ctr Clin Nemo Hosp, Milan, Italy

[7] Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England

[8] Hershey Med Ctr, Hershey, PA USA

[9] Univ Tennessee, Memphis, TN USA

[10] Alberta Childrens Prov Gen Hosp, Calgary, AB, Canada

[11] Duke Univ, Med Ctr, Durham, NC USA

[12] Lurie Childrens Hosp, Chicago, IL USA

[13] Univ Calif Davis, Sacramento, CA 95817 USA

[14] Childrens Healthcare Atlanta, Atlanta, GA USA

[15] Univ Florida, Gainesville, FL USA

[16] Univ Minnesota, Minneapolis, MN USA

[17] Carolinas Med Ctr, Charlotte, NC 28203 USA

[18] Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA

来源：

MUSCLE & NERVE | 2020年 / 62卷 / 03期

关键词：

Becker muscular dystrophy; clinical features; dystrophinopathy; musculoskeletal; BECKER MUSCULAR-DYSTROPHY; DUCHENNE DYSTROPHY; CLINICAL-TRIAL; PHENOTYPE; PROTEIN; DESIGN;

D O I：

10.1002/mus.27011

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：369 / 376

页数：8

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