Autor: |
Jodi Y. So, Jaron Nazaroff, Chinonso V. Iwummadu, Nicki Harris, Emily S. Gorell, Shivali Fulchand, Irene Bailey, Daniel McCarthy, Zurab Siprashvili, M. Peter Marinkovich, Jean Y. Tang, Albert S. Chiou |
Jazyk: |
angličtina |
Rok vydání: |
2022 |
Předmět: |
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Zdroj: |
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022) |
Druh dokumentu: |
article |
ISSN: |
1750-1172 |
DOI: |
10.1186/s13023-022-02546-9 |
Popis: |
Abstract Background Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating blistering genodermatosis caused by mutations in the COL7A1 gene, which encodes for type VII collagen and is necessary for dermal-epidermal adhesion and integrity. Disease manifestations include severe and debilitating wounds, aggressive squamous cell carcinomas, and premature death; however, there are currently no approved therapies. This Phase 1/2a, open-label study evaluated the long-term efficacy and safety of gene-corrected autologous keratinocyte grafts (EB-101) for chronic RDEB wounds. Methods Autologous keratinocytes were harvested from participants with severe RDEB, transduced with a retrovirus containing the full-length COL7A1 gene, and grown into 5 × 7 cm (35 cm2) sheets. Gene-corrected keratinocyte sheets were then transplanted onto chronic RDEB wounds present for ≥ 12 weeks. Results Seven adult participants with severe RDEB were grafted with six sheets each (42 total sheets) onto wounds and followed for a mean of 5.9 years (range 4–8 years). Long-term improvements in wound healing and symptoms were observed. At year five, 70% (21/30) of treated sites demonstrated ≥ 50% wound healing compared to baseline by investigator global assessment. No sites with ≥ 50% wound healing were painful or pruritic, compared to 67% (6/9) of sites with |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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