Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa

Mark B Geyer; Kavita Radhakrishnan; Roger Giller; Noriko Umegaki; Sivan Harel; Maija Kiuru; Kimberly D Morel; Nicole LeBoeuf; Jessica Kandel; Anna Bruckner; Sandra Fabricatore; Mei Chen; David Woodley; John McGrath; LeeAnn Baxter-Lowe; Jouni Uitto; Angela M Christiano; Mitchell S Cairo

doi:10.1016/j.jpeds.2015.05.051

Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa

J Pediatr. 2015 Sep;167(3):765-9.e1. doi: 10.1016/j.jpeds.2015.05.051. Epub 2015 Jul 3.

Authors

Mark B Geyer¹, Kavita Radhakrishnan², Roger Giller³, Noriko Umegaki⁴, Sivan Harel⁴, Maija Kiuru⁵, Kimberly D Morel⁶, Nicole LeBoeuf⁷, Jessica Kandel⁸, Anna Bruckner⁹, Sandra Fabricatore¹⁰, Mei Chen¹¹, David Woodley¹¹, John McGrath¹², LeeAnn Baxter-Lowe¹³, Jouni Uitto¹⁴, Angela M Christiano¹⁵, Mitchell S Cairo¹⁶

Affiliations

¹ Department of Medicine (Hematology and Medical Oncology), Memorial Sloan-Kettering Cancer Center, New York, NY.
² Department of Pediatrics, University of California, San Francisco, San Francisco, CA.
³ Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.
⁴ Department of Dermatology, Columbia University, New York, NY.
⁵ Department of Medicine (Dermatology Service), Memorial Sloan-Kettering Cancer Center, New York, NY; Department of Dermatology, Weill Cornell Medical College, New York, NY.
⁶ Department of Dermatology, Columbia University, New York, NY; Department of Pediatrics, Columbia University, New York, NY.
⁷ Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
⁸ Department of Surgery, The University of Chicago Medicine Comer Children's Hospital, Chicago, IL.
⁹ Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO; Department of Dermatology, University of Colorado School of Medicine, Aurora, CO.
¹⁰ Department of Pediatrics, New York Medical College, Valhalla, NY.
¹¹ Department of Dermatology, University of Southern California, Los Angeles, CA.
¹² Department of Genetics and Molecular Medicine, King's College, London, United Kingdom.
¹³ Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles, CA.
¹⁴ Department of Dermatology and Cutaneous Biology, The Thomas Jefferson University, Philadelphia, PA.
¹⁵ Department of Dermatology, Columbia University, New York, NY; Department of Genetics, Columbia University, New York, NY.
¹⁶ Department of Pediatrics, New York Medical College, Valhalla, NY; Department of Medicine, New York Medical College, Valhalla, NY; Department of Pathology, New York Medical College, Valhalla, NY; Department of Microbiology and Immunology, New York Medical College, Valhalla, NY; Department of Cell Biology and Anatomy, New York Medical College, Valhalla, NY. Electronic address: [email protected].

PMID: 26148662
DOI: 10.1016/j.jpeds.2015.05.051

Abstract

Recessive dystrophic epidermolysis bullosa is a severe, incurable, inherited blistering disease caused by COL7A1 mutations. Emerging evidence suggests hematopoietic progenitor cells (HPCs) can be reprogrammed into skin; HPC-derived cells can restore COL7 expression in COL7-deficient mice. We report two children with recessive dystrophic epidermolysis bullosa treated with reduced-toxicity conditioning and HLA-matched HPC transplantation.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Alemtuzumab
Antibodies, Monoclonal, Humanized / therapeutic use
Busulfan / therapeutic use
Child
Collagen Type VII / genetics
Collagen Type VII / metabolism
Epidermolysis Bullosa Dystrophica / genetics
Epidermolysis Bullosa Dystrophica / therapy*
Epithelial Cells / metabolism
Fibroblasts / metabolism
Hematopoietic Stem Cell Transplantation*
Humans
Immunosuppressive Agents / therapeutic use
Infant
Male
Mutation
Myeloablative Agonists / therapeutic use
RNA, Messenger / metabolism
Transplantation Conditioning*
Transplantation, Homologous
Vidarabine / analogs & derivatives
Vidarabine / therapeutic use

Substances

Antibodies, Monoclonal, Humanized
COL7A1 protein, human
Collagen Type VII
Immunosuppressive Agents
Myeloablative Agonists
RNA, Messenger
Alemtuzumab
Vidarabine
Busulfan
fludarabine