Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa
Open accessAbstract
BACKGROUND: Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7). On the basis of preclinical data showing biochemical correction and prolonged survival in col7 −/− mice, we hypothesized that allogeneic marrow contains stem cells capable of ameliorating the manifestations of recessive dystrophic epidermolysis bullosa in humans. METHODS: Between October 2007 and August 2009, we treated seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemotherapy and allogeneic stem-cell transplantation. We assessed C7 expression by means of immunofluorescence staining and used transmission electron microscopy to visualize anchoring fibrils. We measured chimerism by means of competitive polymerase-chain-reaction assay, and documented blister formation and wound healing with the use of digital photography. RESULTS: One patient died of cardiomyopathy before transplantation. Of the remaining six patients, one had severe regimen-related cutaneous toxicity, with all having improved wound healing and a reduction in blister formation between 30 and 130 days after transplantation. We observed increased C7 deposition at the dermal-epidermal junction in five of the six recipients, albeit without normalization of anchoring fibrils. Five recipients were alive 130 to 799 days after transplantation; one died at 183 days as a consequence of graft rejection and infection. The six recipients had substantial proportions of donor cells in the skin, and none had detectable anti-C7 antibodies. CONCLUSIONS: Increased C7 deposition and a sustained presence of donor cells were found in the skin of children with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow transplantation. Further studies are needed to assess the long-term risks and benefits of such therapy in patients with this disorder. (Funded by the National Institutes of Health; ClinicalTrials.gov number, NCT00478244.)
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A recent clinical trial reported improved wound healing and increased mechanical skin stability in children with RDEB after allogeneic bone marrow or umbilical cord blood transplantation.
“A recent clinical trial reported improved wound healing and increased mechanical skin stability in children with recessive dystrophic epidermolysis bullosa (RDEB) after allogeneic bone marrow or umbilical cord blood transplantation (151).”
From Wound repair and regeneration: Mechanisms, signaling, and translation (2014) · cites this paper as [151]
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- Authors
- Wagner, J. E., Ishida-Yamamoto, A., McGrath, J. A., Hordinsky, M., Keene, D. R., Woodley, D. T., Chen, M., Riddle, M. J., Osborn, M. J., Lund, T., Dolan, M., Blazar, B. R., & Tolar, J.
- Affiliations
- University of Minnesota (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2010-08-12
- Volume
- 363
- Issue
- 7
- Pages
- 629-639
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC2967187
- OpenAlex
- W2098214526
- Cited by
- 374
- References
- 35
- Citations by year
- 2026: 5 · 2025: 13 · 2024: 15 · 2023: 9 · 2022: 17 · 2021: 30 · 2020: 19 · 2019: 26 · 2018: 18 · 2017: 25 · 2016: 27 · 2015: 37 · 2014: 35 · 2013: 42 · 2012: 26
- FWCI
- 13.42
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Research Portal (King's College London) (submittedVersion)
- Funders
- National Heart, Lung, and Blood Institute (5R01-HL049997, R01HL049997)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR033625)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Keywords
- recessive dystrophic epidermolysis bullosa, allogeneic stem cell transplantation, bone marrow transplantation, type VII collagen, COL7A1, donor chimerism, anchoring fibrils, basement membrane zone, wound healing, graft rejection, pediatric patients
- MeSH terms
- Adolescent, Child, Child, Preschool, Female, Fetal Blood, Genes, Recessive, Graft Rejection, Humans, Male, Reticulin, Skin, Transplantation, Homologous, Bone Marrow Transplantation, Epidermolysis Bullosa Dystrophica, Transplantation Chimera, Transplantation Conditioning, Collagen Type VII, Microscopy, Electron, Transmission
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