Publications (clinical trials)

This section provides details of genetic skin diseases clinical trial publications with links to relevant articles. This page will be continuously updated every year (last updated 3 March 2021).

  • Rashidghamat E, Kadiyirire T, Ayis S, Petrof G, Liu L, Pullabhatla V, Ainali C, Guy A, Aristodemou S, McMillan JR, Ozoemena L, Mee J, Pramanik R, Saxena A, Nuamah R, de Rinaldis E, Serrano S, Maurin C, Martinez-Queipo M, Lwin SM, Ilic D, Martinez A, Dazzi F, Slaper-Cortenbach I, Westinga K, Zeddies S, van den Broek M, Onoufriadis A, Mellerio JE, McGrath JA. Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 2020 Aug;83(2):447-454. doi: 10.1016/j.jaad.2019.11.038. Link to PubMed

  • Dwiyana RF, Yogya Y, Gondokaryono SP, Diana IA, Suwarsa O, Ramali LM, Sutedja EK, Rahardja JI, Gunawan H. Clinical efficacy of biocellulose, carboxymethyl cellulose and normal saline dressing in epidermolysis bullosa. J Wound Care. 2019 Oct 1;28(Sup10):S4-S9. doi: 10.12968/jowc.2019.28.Sup10.S4. PMID: 31600103. Link to PubMed

  • Eichstadt S, Barriga M, Ponakala A, Teng C, Nguyen NT, Siprashvili Z, Nazaroff J, Gorell ES, Chiou AS, Taylor L, Khuu P, Keene DR, Rieger K, Khosla RK, Furukawa LK, Lorenz HP, Marinkovich MP, Tang JY. Phase 1/2a clinical trial of gene-corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa. JCI Insight. 2019 Oct 3;4(19):e130554. doi: 10.1172/jci.insight.130554. PMID: 31578311; PMCID: PMC6795403. Link to PubMed

  • Chiou AS, Choi S, Barriga M, Dutt-Singkh Y, Solis DC, Nazaroff J, Bailey-Healy I, Li S, Shu K, Joing M, Kwon P, Tang JY. Phase 2 trial of a neurokinin-1 receptor antagonist for the treatment of chronic itch in patients with epidermolysis bullosa: A randomized clinical trial. J Am Acad Dermatol. 2020 Jun;82(6):1415-1421. doi: 10.1016/j.jaad.2019.09.014. Epub 2019 Sep 18. PMID: 31541747. Link to PubMed

  • Dwiyana RF, Gondokaryono SP, Rahardja JI, Arline Diana I, Yogya Y, Gunawan H. Clinical efficacy of dialkylcarbamoylchloride-coated cotton acetate dressing versus combination of normal saline dressing and 2% mupirocin ointment in infected wounds of epidermolysis bullosa. Dermatol Ther. 2019 Sep;32(5):e13047. doi: 10.1111/dth.13047. Epub 2019 Aug 16. PMID: 31369180. Link to PubMed

  • Lwin SM, Syed F, Di WL, Kadiyirire T, Liu L, Guy A, Petrova A, Abdul-Wahab A, Reid F, Phillips R, Elstad M, Georgiadis C, Aristodemou S, Lovell PA, McMillan JR, Mee J, Miskinyte S, Titeux M, Ozoemena L, Pramanik R, Serrano S, Rowles R, Maurin C, Orrin E, Martinez-Queipo M, Rashidghamat E, Tziotzios C, Onoufriadis A, Chen M, Chan L, Farzaneh F, Del Rio M, Tolar J, Bauer JW, Larcher F, Antoniou MN, Hovnanian A, Thrasher AJ, Mellerio JE, Qasim W, McGrath JA. Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa. JCI Insight. 2019 Jun 6;4(11):e126243. doi: 10.1172/jci.insight.126243. PMID: 31167965; PMCID: PMC6629162. Link to PubMed

  • Castela E, Tulic MK, Rozières A, Bourrat E, Nicolas JF, Kanitakis J, Vabres P, Bessis D, Mazereeuw J, Morice-Picard F, Baty D, Berard F, Lacour JP, Passeron T, Chiaverini C. Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment. Br J Dermatol. 2019 Feb;180(2):357-364. doi: 10.1111/bjd.16897. Epub 2018 Dec 2. PMID: 29932457. Link to PubMed

  • Di WL, Lwin SM, Petrova A, Bernadis C, Syed F, Farzaneh F, Moulding D, Martinez AE, Sebire NJ, Rampling D, Virasami A, Zamiri M, Wang W, Hara H, Kadiyirire T, Abdul-Wahab A, Martinez-Queipo M, Harper JI, McGrath JA, Thrasher AJ, Mellerio JE, Qasim W. Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial. Hum Gene Ther. 2019 Sep;30(9):1067-1078. doi: 10.1089/hum.2019.049. Epub 2019 Aug 5. PMID: 31288584. Link to PubMed

  • Kern JS, Schwieger-Briel A, Löwe S, Sumeray M, Davis C, Martinez AE. Oleogel-S10 Phase 3 study "EASE" for epidermolysis bullosa: study design and rationale. Trials. 2019 Jun 11;20(1):350. doi: 10.1186/s13063-019-3362-z. Link to PubMed
  • Moravvej H, Abdollahimajd F, Naseh MH, Piravar Z, Abolhasani E, Mozafari N, Niknejad H. Cultured allogeneic fibroblast injection vs. fibroblasts cultured on amniotic membrane scaffold for dystrophic epidermolysis bullosa treatment. Br J Dermatol. 2018 Jul;179(1):72-79. doi: 10.1111/bjd.16338. Link to PubMed
  • Ablinger M, Felder TK, Wimmer M, Zauner R, Hofbauer P, Lettner T, Wolkersdorfer M, Lagler FB, Diem A, Bauer JW, Wally V. Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex. Orphanet J Rare Dis. 2018 Nov 1;13(1):193. doi: 10.1186/s13023-018-0940-1. Link to PubMed
  • Sindici E, Giuliano B, Astesano S, Fazio L, Dragonetti A, Pugliese M, Carossa S, Broccoletti R, Arduino PG. ord blood platelet gel alone or in combination with photobiomodulation therapy for the treatment of oral ulcerations in patients with epidermolysis bullosa: A pilot clinical comparative study. Photodermatol Photoimmunol Photomed. 2018 Jul;34(4):269-272. doi: 10.1111/phpp.12366. Link to PubMed
  • Wally V, Hovnanian A, Ly J, Buckova H, Brunner V, Lettner T, Ablinger M, Felder TK, Hofbauer P, Wolkersdorfer M, Lagler FB, Hitzl W, Laimer M, Kitzmüller S, Diem A, Bauer JW. Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial. J Am Acad Dermatol. 2018 May;78(5):892-901.e7. doi: 10.1016/j.jaad.2018.01.019. Link to PubMed
  • Woodley DT, Cogan J, Hou Y, Lyu C, Marinkovich MP, Keene D, Chen M. Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients. J Clin Invest. 2017 Aug 1;127(8):3028-3038. doi: 10.1172/JCI92707. Link to PubMed
  • Kerns ML, Guss L, Fahey J, Cohen B, Hakim JM, Sung S, Lu RG, Coulombe PA. Randomized, split-body, single-blinded clinical trial of topical broccoli sprout extract: Assessing the feasibility of its use in keratin-based disorders. J Am Acad Dermatol. 2017 Mar;76(3):449-453.e1. doi: 10.1016/j.jaad.2016.10.009. Link to PubMed
  • Siprashvili Z, Nguyen NT, Gorell ES, Loutit K, Khuu P, Furukawa LK, Lorenz HP, Leung TH, Keene DR, Rieger KE, Khavari P, Lane AT, Tang JY, Marinkovich MP. Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa. JAMA. 2016 Nov 1;316(17):1808-1817. doi: 10.1001/jama.2016.15588. Link to PubMed
  • Chiaverini C, Roger C, Fontas E, Bourrat E, Bourdon-Lanoy E, Labrèze C, Mazereeuw J, Vabres P, Bodemer C, Lacour JP. Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial. Orphanet J Rare Dis. 2016 Mar 25;11:31. doi: 10.1186/s13023-016-0411-5. Link to PubMed
  • El-Darouti M, Fawzy M, Amin I, Abdel Hay R, HegazyR, Gabr H, El Maadawi Z. Treatment of dystrophic epidermolysis bullosa with bone marrow non-hematopoeitic stem cells: a randomized controlled trial. Dermatol Ther 2015 Oct 5. Doi:10.1111/dth.12305. Link to PubMed
  • Fine JD, Manes B, Frangoul H. Systemic granulocyte colony-stimulating factor (G-CSF) enhances wound healing in dystrophic epidermolysis bullosa (DEB): Results of a pilot trial. J Am Acad Dermatol. 2015. 73(1):56-61. Link to PubMed
  • Gorell ES, Leung TH, Khuu P, Lane AT. Purified type 1 collagen wound matrix improves chronic wound healing in patients with recessive dystrophic epidermolysis bullosa. Pediatr Dermatol. 2015. 32(2):220-225. Link to PubMed
  • Yan AC, Honig PJ, Ming ME, Weber K, Shah KN. The safety and efficacy of pimecrolimus, 1% cream for the treatment of Netherton syndrome: results form an exploratory study. Arch Dermatol. 2010. 146(1):57-62. Link to PubMed
  • Petrof G, Lwin SM, Martinez-Queipo M, Abdul-Wahab A, Tso S, Mellerio JE, Slaper-Cortenbach I, Boelens JJ, Tolar J, Veys P, Ofuya M, Peacock JL, Martinez AE, McGrath JA. Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2015 Apr 23. doi: 10.1038/jid.2015.158. [Epub ahead of print] Link to PubMed
  • Zanini A, Guez S, Salera S, Farris G, Morandi A, Gentilino V, Leva E, Manzoni F, Pavesi MA, Esposito S, Macchini F. Oral viscous budesonide as a first-line approach to esophageal stenosis in epidermolysis bullosa: an open-label trial in six children. Paediatr Drugs 2014; 16(5):391-5. Link to PubMed
  • Vahlquist A, Blockhuys S, Steijlen P, van Rossem K, Didona B, Blanco D, Traupe H. Oral liarozole in the treatment of patients with moderate/severe lamellar ichthyosis: results of a randomized, double-blind, multinational, placebo-controlled phase II/III trial. Br J Dermatol 2014; 170(1):173-81. Link to PubMed
  • Vahlquist A, Traupe H, Blockhuys S, Shroot B. Liarazole effective in treatment of lamellar ichthyosis. J Invest Dermatol. 2008;128:S60
  • Ademola J, Frazier C, Kim SJ, Theaux C, Saudez X. Clinical evaluation of 40% urea and 12% ammonium lactate in the treatment of xerosis. Am J Clin Dermatol. 2002; 3(3) 217-222 Link to PubMed
  • Blanchet-Bardon C, Parmentier L, Pibourdin JM, Dupuy P. Evaluation of efficacy and safety of Dexeryl cream in symptomatic treatment of ichthyosis in a single blinded randomized comparative study. Nouv Dermatol. 2000; 19: 664–668.
  • Hofmann B, Stege H, Ruzicka T, Lehmann P. Effect of topical tazarotene in the treatment of congenital ichthyosis. Br J Dermatol. 1999; 141:642–646. Link to PubMed
  • Kuster W, Bohnsack K, Rippke F, Upmeyer HJ, Groll S, Traupe H. Efficacy of urea therapy in children with ichthyosis: a multicenter randomized, placebo-controlled, double-blind, semilateral study.            Dermatology. 1998; 196: 217–222. Link to PubMed
  • Lucker GP, van de Kerkhof PC, van Dïjk MR, Steijlen PM. Effect of topical calcipotriol on congenital ichthyosis. Br J Dermatol. 1994; 4:546–550. Link to PubMed
  • Buxman M, Hickman J, Ragsdale W, Stretcher G, Krochmal L, Wehr RF. Therapeutic activity of lactate 12% lotion in the treatment of ichthyosis: active versus vehicle and active versus a petrolatum cream.            J Am Acad Dermatol. 1986; 6:1253–1258. Link to PubMed
  • Lykkesfeldt G, Høyer H. Topical cholesterol treatment of recessive X-linked ichthyosis. Lancet. 1983; 8363:1337–1338. Link to PubMed
  • Baden HP, Buxman MM, Weinstein GD, Yoder FW. Treatment of ichthyosis with isotretinoin. J Am Acad Dermatol. 1982; 6:716–720. Link to PubMed
  • Jacoby RH, Gilkes JJ. A new urea/hydrocortisone powder-cream compared with other topical corticosteroid preparations: a six-center study. Curr Med Res Opin. 1974; 8: 474–481. Link to PubMed
  • Pope FM, Rees JK, Wells RS, Lewis KG. Out-patient treatment of ichthyosis: a double-blind trial of ointments. Br J Dermatol. 1972; 3:291–296. Link to PubMed