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 12 months (last updated 25 January 2018).

• 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
• Petrof G, Martinez-Queipo M, Mellerio JE, Kemp P, McGrath JA. Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. Br J Dermatol. 2013;169(5):1025-33. 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
• Venugopal SS, Yan W, Frew JW, Cohn HI, Rhodes LM, Tran K, Melbourne W, Nelson JA, Sturm M, Fogarty J, Marinkovich MP, Igawa S, Ishida-Yamamoto A, Murrell DF. A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 2013;69(6):898-908. Link to PubMed
• El-Darouti MA, Fawzy MM, Amin IM, Abdel Hay RM, Hegazy RA, Abdel Halim DM. Mycophenolate mofetil: a novel immunosuppressant in the treatment of dystrophic epidermolysis bullosa, a randomized controlled trial. J Dermatolog Treat. 2013;24(6):422-6. Link to PubMed
• Wally V, Kitzmueller S, Lagler F, Moder A, Hitzl W, Wolkersdorfer M, Hofbauer P, Felder TK, Dornauer M, Diem A, Eiler N, Bauer JW. Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study. Orphanet J Rare Dis. 2013;8:69. Link to PubMed
• Lara-Corrales I, Parkin PC, Stephens D, Hamilton J, Koren G, Weinstein M, Sibbald RG, Pope E. The efficacy of trimethoprim in wound healing of patients with epidermolysis bullosa: a feasibility trial. J Am Acad Dermatol. 2012;66(2):264-70. Link to PubMed
• Blanchet-Bardon C, Tadini G, Machado Matos M, Delarue A. Association of glycerol and paraffin in the treatment of ichthyosis in children: an international, multicentric, randomized, controlled, double-blind study. J Eur Acad Dermatol Venereol. 2012;26(8):1014-9. Link to PubMed
• Wagner JE, Ishida-Yamamoto A, McGrath JA, Hordinsky M, Keene DR, Woodley DT, Chen M, Riddle MJ, Osborn MJ, Lund T, Dolan M, Blazar BR, Tolar J. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med. 2010;363(7):629-39. Link to PubMed
• Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS, Kornbrust DJ, Smith FJ, McLean WI, Milstone LM, Kaspar RL. First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther. 2010;18(2):442-6. Link to PubMed
• Vahlquist A, Traupe H, Blockhuys S, Shroot B. Liarazole effective in treatment of lamellar ichthyosis. J Invest Dermatol. 2008;128:S60
• Verfaille CJ, Vanhoutte FP, Blanchet-Bardon C, van Steensel MA, Steijlen PM. Oral liarazole vs acitretin in the treatment of ichthyosis: a phase II/III multicenter, double-blind, randomized, active-controlled study. Br J Dermatol. 2007;156(5):965-73. Link to PubMed
• Mavilio F, Pellegrini G, Ferrari S, Di Nunzio F, Di Iorio E, Recchia A, Maruggi G, Ferrari G, Provasi E, Bonini C, Capurro S, Conti A, Magnoni C, Giannetti A, De Luca M. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med. 2006;12(12):1397-402. Link to PubMed
• Blanchet-Bardon C, Bohbot S. Using Urgotul dressing for the management of epidermolysis bullosa skin lesions. J Wound Care. 2005;14(10):490-1, 494-6. Link to PubMed
• Lucker GP, Verfaille CJ, Heremans AM, Vanhoutte FP, Boegheim JP, Steijlen PP. Topical liarozole in ichthyosis: a double-blind, left-right comparative study followed by a long-term open maintenance study. Br J Dermatol. 2005 Mar;152(3):566-9. Link to PubMed
• Hasegawa T, Suga Y, Mizoguchi M, Ikeda S, Ogawa H, Kubo K, Matsui H, Kagawa S, Kuroyanagi Y. Clinical trial of allogeneic cultured dermal substitute for the treatment of intractable skin ulcers in 3 patients with recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 2004;50(5):803-4. Link to PubMed
• Weiner M, Stein A, Cash S, de Leoz J, Fine JD. Tetracycline and epidermolysis bullosa simplex: a double-blind, placebo-controlled, crossover randomized clinical trial. Br J Dermatol. 2004;150(3):613-4 Link to PubMed
• Fine JD, Johnson LB, Weiner M, Stein A, Suchindran C. Chemoprevention of squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: results of a phase 1 trial of systemic isotretinoin. J Am Acad Dermatol. 2004;50(4):563-71. Link to PubMed
• 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
• Guckes AD, Scurria MS, King TS, McCarthy GR, Brahim JS. Prospective clinical trial of dental implants in persons with ectodermal dysplasia. J Prosthet Dent. 2002;88(1):21-5. Link to PubMed
• Falabella AF, Valencia IC, Eaglstein WH, Schachner LA. Tissue-engineered skin (Apligraf) in the healing of patients with epidermolysis bullosa wounds. Arch Dermatol. 2000;136(10):1225-30. 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.
• Gånemo A, Virtanen M, Vahlquist A. Improved topical treatment of lamellar ichthyosis: a double-blind study of four different cream formulations. Br J Dermatol. 1999;141(6):1027-32. Link to PubMed
• 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
• Fridge JL, Vichinsky EP. Correction of the anemia of epidermolysis bullosa with intravenous iron and erythropoietin. J Pediatr. 1998;132(5):871-3. 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
• Kragballe K, Steijlen PM, Ibsen HH, van de Kerkhof PC, Esmann J, Sorensen LH, Axelsen MB. Efficacy, tolerability, and safety of calcipotriol ointment in disorders of keratinization. Results of a randomized, double-blind, vehicle-controlled, right/left comparative study. Arch Dermatol. 1995;131(5):556-60. 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
• Caldwell-Brown D, Stern RS, Lin AN, Carter DM. Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa. Epidermolysis Bullosa Study Group. N Engl J Med. 1992;327(3):163-7. Link to PubMed
• Fine JD, Johnson L. Evaluation of the efficacy of topical bufexamac in epidermolysis bullosa simplex. A double-blind placebo-controlled crossover trial. Arch Dermatol. 1988;124(11):1669-72. 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
• Bauer EA, Cooper TW, Tucker DR, Esterly NB. Phenytoin therapy of recessive dystrophic epidermolysis bullosa. Clinical trial and proposed mechanism of action on collagenase. N Engl J Med. 1980;303(14):776-81. 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
• Smith EB, Michener WM. Vitamin E treatment of dermolytic bullous dermatosis: a controlled study. Arch Dermatol. 1973;108(2):254-6. 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