作者
Su M Lwin, Farhatullah Syed, Wei-Li Di, Tendai Kadiyirire, Lu Liu, Alyson Guy, Anastasia Petrova, Alya Abdul-Wahab, Fiona Reid, Rachel Phillips, Maria Elstad, Christos Georgiadis, Sophia Aristodemou, Patricia A Lovell, James R McMillan, John Mee, Snaigune Miskinyte, Matthias Titeux, Linda Ozoemena, Rashida Pramanik, Sonia Serrano, Racheal Rowles, Clarisse Maurin, Elizabeth Orrin, Magdalena Martinez-Queipo, Ellie Rashidghamat, Christos Tziotzios, Alexandros Onoufriadis, Mei Chen, Lucas Chan, Farzin Farzaneh, Marcela Del Rio, Jakub Tolar, Johann W Bauer, Fernando Larcher, Michael N Antoniou, Alain Hovnanian, Adrian J Thrasher, Jemima E Mellerio, Waseem Qasim, John A McGrath
发表日期
2019/6/6
期刊
JCI insight
卷号
4
期号
11
出版商
American Society for Clinical Investigation
简介
BACKGROUND
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 encoding basement membrane type VII collagen (C7), the main constituent of anchoring fibrils (AFs) in skin. We developed a self-inactivating lentiviral platform encoding a codon-optimized COL7A1 cDNA under the control of a human phosphoglycerate kinase promoter for phase I evaluation.
METHODS
In this single-center, open-label phase I trial, 4 adults with RDEB each received 3 intradermal injections (~ 1× 10 6 cells/cm 2 of intact skin) of COL7A1-modified autologous fibroblasts and were followed up for 12 months. The primary outcome was safety, including autoimmune reactions against recombinant C7. Secondary outcomes included C7 expression, AF morphology, and presence of transgene in the injected skin.
RESULTS
Gene-modified fibroblasts were well tolerated …
学术搜索中的文章
SM Lwin, F Syed, WL Di, T Kadiyirire, L Liu, A Guy… - JCI insight, 2019