Jun Su Lee
Boston Children's Hospital
4 Papers
Jun Su Lee is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Compound heterozygosity & Fukutin. The author has an hindex of 1, co-authored 1 publications.
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Papers
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
Perry B. Shieh,Nancy Kuntz,James J. Dowling,Wolfgang Müller-Felber,Carsten G Bönnemann,Andreea Mihaela Seferian,Laurent Servais,Barbara K Smith,Francesco Muntoni,Astrid Blaschek,A. R. Foley,Dimah N. Saade,Sarah B. Neuhaus,Lindsay N Alfano,Alan H. Beggs,Ana Buj-Bello,Martin K Childers,Tina Duong,Robert J. Graham,Minal Jain,Julie Coats,Vicky MacBean,Emma James,Jun Su Lee,Fulvio Mavilio,Weston Miller,Fatbardha Varfaj,Michael Murtagh,Cong Han,M. Noursalehi,Michael W Lawlor,Suyash Prasad,Salvador Rico +32 more
TL;DR: The primary efficacy outcome was the change from baseline to week 24 in hours of daily ventilator support, and after three unexpected deaths, dosing at the higher dose was stopped and the two-part feature of the study design was eliminated.
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Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
Bung Chan Lim,Chang-Seok Ki,Jong-Won Kim,Anna Cho,Min Jung Kim,Hee Hwang,Ki Joong Kim,Yong Seung Hwang,Woong-Yang Park,Yun-Jung Lim,In One Kim,Jun Su Lee,Jong Hee Chae +12 more
TL;DR: FKTN mutations are the most common genetic cause of CMD with defective alpha-dystroglycan glycosylation in Korea and is associated with a more severe clinical and radiological phenotype compared with homozygosity for the retrotransposal insertion mutation.
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INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy
James J. Dowling,Wolfgang Müller-Felber,Barbara K. Smith,Carsten G. Bönnemann,Nancy L. Kuntz,Francesco Muntoni,Laurent Servais,Lindsay N. Alfano,Alan H. Beggs,Deborah A. Bilder,Astrid Blaschek,Tina Duong,Robert J. Graham,Minal S. Jain,Michael W. Lawlor,Jun Su Lee,Julie R. Coats,C. Lilien,Linda Lowes,Victoria MacBean,S. Neuhaus,M. Noursalehi,Teresa Pitts,Caroline Finlay,Sarah Christensen,Gerrard F. Rafferty,Andreea Mihaela Seferian,Etsuko Tsuchiya,Emma James,Weston P. Miller,Bryan Sepulveda,Maria Candida Vila,Suyash Prasad,Salvador Rico,Perry B. Shieh +34 more
TL;DR: INCEPTUS confirmed high medical impact, static respiratory, motor and feeding difficulties, and early death in boys with XLMTM and identified Hepatobiliary disease as an under-recognized comorbidity.
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
Michael Lawlor,Benedikt Schoser,Marta Margeta,C.A Sewry,Karra A. Jones,P. Shieh,Nancy L Kuntz,Barbara K. Smith,James J. Dowling,W. Müller-Felber,Carsten G. Bönnemann,Andreea M. Seferian,Astrid Blaschek,Sarah B. Neuhaus,A. R. Foley,Dimah N. Saade,Etsuko Tsuchiya,Ummulwara R. Qasim,Margaret Beatka,Mariah J. Prom,Emily Ott,Susan Danielson,Paul Krakau,Suresh N. Kumar,Hui Meng,Mark A. Vanden Avond,Clive Wells,Heather Gordish-Dressman,Alan H. Beggs,Sarah Christensen,Edward Conner,Emma James,Jun Su Lee,Chanchal Sadhu,Weston Miller,Bryan Sepulveda,Fatbardha Varfaj,S. Prasad,Salvador Rico +38 more
TL;DR: Muscle biopsies from individuals with XLMTM treated with resamirigene bilparvovec display statistically significant improvement in organelle localisation and myofibre size during a period of substantial improvements in muscle strength and respiratory function.