Journal
HUMAN GENE THERAPY CLINICAL DEVELOPMENT
Volume 24, Issue 4, Pages 182-190Publisher
MARY ANN LIEBERT, INC
DOI: 10.1089/humc.2013.195
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Funding
- Moulton Charitable Foundation
- Newlife Foundation
- British Skin Foundation/Ichthyosis Support Group
- National Institute for Health Research via GOSH BRC
- GOSH Trustees
- Wellcome Trust
- National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy's and St. Thomas' National Health Service (NHS) Foundation Trust
- King's College London
- Biotechnology and Biological Sciences Research Council [BB/E005896/1] Funding Source: researchfish
- BBSRC [BB/E005896/1] Funding Source: UKRI
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Netherton syndrome (NS) is a serious inherited skin disorder caused by mutations in the serine protease inhibitor Kazal type 5 gene (SPINK5), which encodes for a serine protease inhibitor lymphoepithelial Kazal type-related inhibitor (LEKTI). Patients with NS have defective keratinization, hair shaft defects, recurrent infections, atopy, and a predisposition to skin malignancies. Historically, 1 in 10 infants has died before their first birthday. Currently, there are no proven treatments to cure this condition. A SIN-lentiviral vector encoding the codon-optimized SPINK5 gene under the control of a 572 bp element derived from the human involucrin promoter can confer compartment-specific LEKTI expression in NS keratinocytes with restoration of normal skin architecture. Here we detail a study protocol for a phase I trial for feasibility and safety evaluations of autologous epidermal sheets generated from ex vivo gene-corrected keratinocyte stem cells, which will be grafted onto patients with mutation-proven NS.
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