Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015

Journal of Investigative Dermatology

Volumn 136, Issue , 2016, Pages 352-358

  Uitto, Jouni ^a   Bruckner Tuderman, Leena ^b   Christiano, Angela M ^c   McGrath, John A ^d   Has, Cristina ^b   South, Andrew P ^a   Kopelan, Brett ^e   Robinson, E Clare ^f  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF FREIBURG   (Germany)

^c Columbia University ^*  (United States)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e DebRA of America   (United States)

^f DEBRA International   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIFIBROTIC AGENT; ANTIINFLAMMATORY AGENT;

ALLOGENEIC STEM CELL TRANSPLANTATION; AUTOLOGOUS STEM CELL TRANSPLANTATION; BONE MARROW TRANSPLANTATION; DROSOPHILA; EPIDERMOLYSIS BULLOSA; FIBROBLAST; GENOME; GENOMICS; HUMAN; INDUCED PLURIPOTENT STEM CELL; INFECTION; INFLAMMATION; MESENCHYMAL STEM CELL; MESENCHYMAL STROMA CELL; MOSAICISM; MURINE MODEL; NONHUMAN; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; PRURITUS; RANDOMIZED CONTROLLED TRIAL (TOPIC); SHORT SURVEY; SKIN CARCINOMA; SUBSTITUTION THERAPY; WOUND HEALING; ZEBRA FISH; ANIMAL; AUSTRIA; COMPARATIVE STUDY; DISEASE MODEL; FORECASTING; GENE THERAPY; GENETICS; INTERNATIONAL COOPERATION; MOLECULARLY TARGETED THERAPY; MOUSE; ORGANIZATION; PROCEDURES; STEM CELL TRANSPLANTATION; TREATMENT OUTCOME;

ANIMALS; AUSTRIA; BONE MARROW TRANSPLANTATION; CONGRESSES AS TOPIC; DISEASE MODELS, ANIMAL; DROSOPHILA; EPIDERMOLYSIS BULLOSA; FORECASTING; GENETIC THERAPY; HUMANS; INTERNATIONALITY; MICE; MOLECULAR TARGETED THERAPY; STEM CELL TRANSPLANTATION; TREATMENT OUTCOME; ZEBRAFISH;

EID: 84982129629     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2015.10.050     Document Type: Short Survey

References (61)

1. Albrengues, J., Bourget, I., Pons, C., Butet, V., Hofman, P., Tartare-Deckert, S., et al. LIF mediates proinvasive activation of stromal fibroblasts in cancer. Cell Rep 7 (2014), 1664–1678.
2. Arbiser, J.L., Fan, C.Y., Su, X., Van Emburgh, B.O., Cerimele, F., Miller, M.S., et al. Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. J Invest Dermatol 123 (2004), 788–790.
3. Bidou, L., Allamand, V., Rousset, J.P., Namy O Sense from nonsense: therapies for premature stop codon diseases. Trends Mol Med 18 (2012), 679–688.
4. Bohnekamp, J., Cryderman, D.E., Paululat, A., Baccam, G.C., Wallrath, L.L., Magin, T.M., A drosophila model of epidermolysis bullosa simplex. J Invest Dermatol 135 (2015), 2031–2039.
5. Bruckner-Tuderman, L., McGrath, J.A., Robinson, E.C., Uitto, J., Animal models of epidermolysis bullosa: update 2010. J Invest Dermatol 130 (2010), 1485–1488.
6. Bruckner-Tuderman, L., McGrath, J.A., Robinson, E.C., Uitto, J., Progress in epidermolysis bullosa research: Summary of DEBRA International Research Conference 2012. J Invest Dermatol 133 (2013), 2121–2126.
7. Conget, P., Rodriguez, F., Kramer, S., Allers, C., Simon, V., Palisson, F., et al. Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa. Cytotherapy 12 (2010), 429–431.
8. Duarte, B., Miselli, F., Murillas, R., Espinosa-Hevia, L., Cigudosa, J.C., Recchia, A., et al. Long-term skin regeneration from a gene-targeted human epidermal stem cell clone. Mol Ther 22 (2014), 1878–1880.
9. El-Darouti, M., Fawzy, M., Amin, I., Abdel Hay, R., Hegazy, R., Gabr, H., et al. Treatment of dystrophic epidermolysis bullosa with bone marrow non-hematopoeitic stem cells: a randomized controlled trial. Dermatol Ther, 2015 doi:10.1111/dth.12305.
10. Fine, J.D., Johnson, L.B., Weiner, M., Li, K.P., Suchindran, C., Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol 60 (2009), 203–211.
11. Fritsch, A., Loeckermann, S., Kern, J.S., Braun, A., Bosl, M.R., Bley, T.A., et al. A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. J Clin Invest 118 (2008), 1669–1679.
12. Geyer, M.B., Radhakrishnan, K., Giller, R., Umegaki, N., Harel, S., Kiuru, M., et al. Reduced toxicity conditioning and allogeneic hematopoietic progenitor cell transplantation for recessive dystrophic epidermolysis bullosa. J Pediatr 167 (2015), 765–769.
13. Gostynski, A., Deviaene, F.C., Pasmooij, A.M., Pas, H.H., Jonkman, M.F., Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy. Br J Dermatol 161 (2009), 444–447.
14. Gostynski, A., Pasmooij, A.M., Jonkman, M.F., Successful therapeutic transplantation of revertant skin in epidermolysis bullosa. J Am Acad Dermatol 70 (2014), 98–101.
15. Hammersen, J., Hou, J., Wünsche, S., Brenner, S., Winkler, T., Schneider, H., A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse. J Invest Dermatol 135 (2015), 921–924.
16. Heinonen, S., Männikkö, M., Klement, J.F., Whitaker-Menezes, D., Murphy, G.F., Uitto, J., Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J Cell Sci 112 (1999), 3641–3648.
17. Hoste, E., Arwert, E.N., Lal, R., South, A.P., Salas-Alanis, J.C., Murrell, D.F., et al. Innate sensing of microbial products promotes wound-induced skin cancer. Nat Commun, 6, 2015, 5932.
18. Hou, Y., Guey, L.T., Wu, T., Gao, R., Cogan, J., Wang, X., et al. Intravenously administered recombinant human type VII collagen derived from Chinese hamster ovary cells reverses the disease phenotype in recessive dystrophic epidermolysis bullosa mice. J Invest Dermatol 135 (2015), 3060–3067.
19. Hurskainen, T., Kokkonen, N., Sormunen, R., Jackow, J., Loffek, S., Soininen, R., et al. Deletion of the major bullous pemphigoid epitope region of collagen XVII induces blistering, autoimmunization, and itching in mice. J Invest Dermatol 135 (2015), 1303–1310.
20. Hüttner, C., Gruber, C., Lang, R., Breitenbach, J., Hintner, H., Bauer, J.W., Expression and regulation of cathelicidin in keratinocytes from patients with epidermolysis bullosa. J Invest Dermatol 132 (2012), S7–S13.
21. Iinuma, S., Aikawa, E., Tamai, K., Fujita, R., Kikuchi, Y., Chino, T., et al. Transplanted bone marrow-derived circulating PDGFRalpha+ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft. J Immunol 194 (2015), 1996–2003.
22. Jonkman, M.F., Scheffer, H., Stulp, R., Pas, H.H., Nijenhuis, M., Heeres, K., et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 88 (1997), 543–551.
23. Kim, S.H., Choi, H.Y., So, J.H., Kim, C.H., Ho, S.Y., Frank, M., et al. Zebrafish type XVII collagen: gene structures, expression profiles, and morpholino “knock-down” phenotypes. Matrix Biol 29 (2010), 629–637.
24. Kiritsi, D., Garcia, M., Brander, R., Has, C., Meijer, R., Jose Escamez, M., et al. Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa. J Invest Dermatol 134 (2014), 2097–2104.
25. Koller, U., Hainzl, S., Kocher, T., Huttner, C., Klausegger, A., Gruber, C., et al. Trans-splicing improvement by the combined application of antisense strategies. Int J Mol Sci 16 (2015), 1179–1191.
26. Kuehl, T.T., Mezger, M., Hausser-Siller, I., Handgretinger, R., Bruckner-Tuderman, L., Nyström, A., High local concentrations of intradermal MSCs restore skin inegrity and facilitate wound healing in dystrophic epidermolysis bullosa. Mol Ther 23 (2015), 1368–1379.
27. Küttner, V., Mack, C., Rigbolt, K.T.G., Kern, J.S., Schilling, O., Busch, H., et al. Global remodeling of cellular microenvironment due to loss of collagen VII. Mol Syst Biol, 2013 Online Publication 16.04.2013, doi:MSB2013.17.
28. Li, Q., Uitto, J., Zebrafish as a model system to study skin biology and pathology. J Invest Dermatol, 134, 2014, e21.
29. Liao, Y., Itoh, M., Yang, A., Zhu, H., Roberts, S., Highet, A.M., et al. Human cord blood-derived unrestricted somatic stem cells promote wound healing and have therapeutic potential for patients with recessive dystrophic epidermolysis bullosa. Cell Transplant 23 (2014), 303–317.
30. Liao, Y., Ivanova, L., Zhu, H., Yahr, A., Ayello, J., van de Ven, C., et al. Rescue of the mucocutaneous manifestations by human cord blood derived nonhematopoietic stem cells in a mouse model of recessive dystrophic epidermolysis bullosa. Stem Cells 33 (2015), 1807–1817.
31. Martincorena, I., Roshan, A., Gerstung, M., Ellis, P., Van Loo, P., McLaren, S., et al. Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin. Science 348 (2015), 880–886.
32. Mellerio, J.E., Robertson, S.J., Bernardis, C., Diem, A., Fine, J.D., George, R., et al. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa - best clinical practice guidelines. Br J Dermatol, 2015 doi:10.1111/bjd.14104.
33. Moniaga, C.S., Egawa, G., Miyachi, Y., Kabashima, K., Calcipotriol modulates IL-22 receptor expression and keratinocyte proliferation in IL-22-induced epidermal hyperplasia. J Dermatol Sci 71 (2013), 76–77.
34. Nagy, N., Almaani, N., Tanaka, A., Lai-Cheong, J.E., Techanukul, T., Mellerio, J.E., et al. HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: Possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 131 (2011), 1771–1774.
35. Ng, Y.Z., Pourreyron, C., Salas-Alanis, J.C., Dayal, J.H., Cepeda-Valdes, R., Yan, W., et al. Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res 72 (2012), 3522–3534.
36. Nyström, A., Thriene, K., Mittapalli, V., Kern, J.S., Kiritsi, D., Dengjel, J., et al. Losartan ameliorates dystrophic epidermolysis bullosa and uncovers new disease mechanisms. EMBO Mol Med 7 (2015), 1211–1228.
37. Nyström, A., Velati, D., Mittapalli, V.R., Fritsch, A., Kern, J.S., Bruckner-Tuderman L Collagen VII plays a dual role in wound healing. J Clin Invest 123 (2013), 3498–3509.
38. Pasmooij, A.M., Jonkman, M.F., Uitto, J., Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy. Discov Med 14 (2012), 167–179.
39. Perdoni, C., McGrath, J.A., Tolar, J., Preconditioning of mesenchymal stem cells for improved transplantation efficacy in recessive dystrophic epidermolysis bullosa. Stem Cell Res Ther, 5, 2014, 121.
40. Petrof, G., Lwin, S.M., Martinez-Queipo, M., Abdul-Wahab, A., Tso, S., Mellerio, J.E., et al. Potential of systemic allogeneic mesenchymal stromal cell therapy for children with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 135 (2015), 2319–2321.
41. Petrof, G., Martinez-Queipo, M., Mellerio, J.E., Kemp, P., McGrath, J.A., Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. Br J Dermatol 169 (2013), 1025–1033.
42. Pourreyron, C., Cox, G., Mao, X., Volz, A., Baksh, N., Wong, T., et al. Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol 127 (2007), 2438–2444.
43. Remington, J., Wang, X., Hou, Y., Zhou, H., Burnett, J., Muirhead, T., et al. Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol Ther 17 (2009), 26–33.
44. Sebastiano, V., Zhen, H.H., Haddad, B., Bashkirova, E., Melo, S.P., Wang, P., et al. Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa. Sci Transl Med, 6, 2014, 264ra163.
45. Snauwaert, J.J., Yuen, W.Y., Jonkman, M.F., Moons, P., Naulaers, G., Morren, M.A., Burden of itch in epidermolysis bullosa. Br J Dermatol 171 (2014), 73–78.
46. Sproule, T.J., Bubier, J.A., Grandi, F.C., Sun, V.Z., Philip, V.M., McPhee, C.G., et al. Molecular identification of collagen17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice. PLoS Genet, 10, 2014, e1004068.
47. Tamai, K., Yamazaki, T., Chino, T., Ishii, M., Otsuru, S., Kikuchi, Y., et al. PDGFR{alpha}-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc Natl Acad Sci U S A 108 (2011), 6609–6614.
48. Tolar, J., McGrath, J., Keene, D.R., Hematopoietic and mesenchymal cell transplantation after myeloablative and non-myeloablative conditioning for recessive dystrophic and junctional epidermolysis bullosa (RDEB, JEB). J Invest Dermatol, 132, 2012, A534 (Abstract).
49. Tolar, J., McGrath, J.A., Xia, L., Riddle, M.J., Lees, C.J., Eide, C., et al. Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 134 (2014), 1246–1254.
50. Turczynski, S., Titeux, M., Pironon, N., Hovnanian, A., Antisense-mediated exon skipping to reframe transcripts. Methods Mol Biol 867 (2012), 221–238.
51. Uitto, J., McGrath, J.A., Rodeck, U., Bruckner-Tuderman, L., Robinson, E.C., Progress in epidermolysis bullosa research: toward treatment and cure. J Invest Dermatol 130 (2010), 1778–1784.
52. Umegaki-Arao, N., Pasmooij, A.M., Itoh, M., Cerise, J.E., Guo, Z., Levy, B., et al. Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa. Sci Transl Med, 6, 2014, 264ra164.
53. Venugopal, S.S., Yan, W., Frew, J.W., Cohn, H.I., Rhodes, L.M., Tran, K., et al. A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol 69 (2013), 898–908.e7.
54. Wagner, J.E., Ishida-Yamamoto, A., McGrath, J.A., Hordinsky, M., Keene, D.R., Woodley, D.T., et al. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med 363 (2010), 629–639.
55. Wally, V., Kitzmueller, S., Lagler, F., Moder, A., Hitzl, W., Wolkersdorfer, M., et al. Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study. Orphanet J Rare Dis, 8, 2013, 69.
56. Wang, N.J., Sanborn, Z., Arnett, K.L., Bayston, L.J., Liao, W., Proby, C.M., et al. Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proc Natl Acad Sci USA 108 (2011), 17761–17766.
57. Wang, X., Ghasri, P., Amir, M., Hwang, B., Hou, Y., Khalili, M., et al. Topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure. Mol Ther 21 (2013), 1335–1344.
58. Wenzel, D., Bayerl, J., Nystrom, A., Bruckner-Tuderman, L., Meixner, A., Penninger, J.M., Genetically corrected iPSCs as cell therapy for recessive dystrophic epidermolysis bullosa. Sci Transl Med, 6, 2014, 264ra165.
59. Winter, L., Staszewska, I., Mihailovska, E., Fischer, I., Goldmann, W.H., Schroder, R., et al. Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle. J Clin Invest 124 (2014), 1144–1157.
60. Wong, T., Gammon, L., Liu, L., Mellerio, J.E., Dopping-Hepenstal, P.J., Pacy, J., et al. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol 128 (2008), 2179–2189.
61. Woodley, D.T., Wang, X., Amir, M., Hwang, B., Remington, J., Hou, Y., et al. Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. J Invest Dermatol 133 (2013), 1910–1913.