Reviews Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future Madeleine Taylor 1,2 , Shaukat Khan 1 , Molly Stapleton 1,2 , Jianmin Wang 3 , Jing Chen 3 , Robert Wynn 4 , Hiromasa Yabe 5 , Yasutsugu Chinen 6 , Jaap Jan Boelens 7 , Robert W. Mason 1,2 , Francyne Kubaski 8 , Dafne D.G. Horovitz 9 , Anneliese L. Barth 9 , Marta Serafini 10 , Maria Ester Bernardo 11 , Hironori Kobayashi 12 , Kenji E. Orii 13 , Yasuyuki Suzuki 14 , Tadao Orii 13 , Shunji Tomatsu 1,12,13,15, * 1 Department of Biomedical, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware 2 Deparment of Biological Science, University of Delaware, Newark, Delaware 3 Department of Hematology/Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China 4 Department of Paediatric Haematology and Cell Therapy, University of Manchester, Manchester, United Kingdom 5 Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan 6 Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Nishihara, Japan 7 Stem Cell Transplantation and Cellular Therapies, Memorial Sloan Kettering Cancer Center, New York, New York 8 Medical Genetics Service, Hospital de Cl e Anicas de Porto Alegre (HCPA), Department of Genetics and Molecular Biology- Program Partnership Graduate in Genetics and Molecular Biology (PPGBM), Federal University of Rio Grande do Sul (UFRGS), and National Institute of Populational Medical Genetics (INAGEMP), Porto Alegre, Brazil 9 Medical Genetics Department, National Institute of Women, Children, and Adolescent Health, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil 10 Department of Pediatrics, Dulbecco Telethon Institute, University of Milano-Bicocca, Monza, Italy 11 Pediatric Immunohematology and Bone Marrow Transplantation Unit, San Raffaele-Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy 12 Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan 13 Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan 14 Medical Education Development Center, Gifu University, Gifu, Japan 15 Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania Article history: Received 10 December 2018 Accepted 11 February 2019 ABSTRACT Allogenic hematopoietic stem cell transplantation (HSCT) has proven to be a viable treatment option for a selected group of patients with mucopolysaccharidoses (MPS), including those with MPS types I, II, IVA, VI, and VII. Early diagnosis and timely referral to an expert in MPS are critical, followed by a complete examination and evaluation by a multidisciplinary team, including a transplantation physician. Treatment recommendations for MPS are based on multiple biological, sociological, and financial factors, including type of MPS, clinical severity, prognosis, present clinical signs and symptoms (disease stage), age at onset, rate of progression, family factors and expecta- tions, financial burden, feasibility, availability, risks and benefits of available therapies such as HSCT, enzyme replacement therapy (ERT), surgical interventions, and other supportive care. International collaboration and data review are critical to evaluating the therapeutic efficacy and adverse effects of HSCT for MPS. Collaborative efforts to assess HSCT for MPS have been ongoing since the first attempt at HSCT in a patient with MPS reported in 1981. The accumulation of data since then has made it possible to identify early outcomes (ie, transplantation outcomes) and long-term disease-specific outcomes resulting from HSCT. The recent identification of predictive factors and the development of innovative regimens have significantly improved the outcomes of both engraftment failure and transplantation-related mortality. Assessment of long-term outcomes has considered a variety of factors, including type of MPS, type of graft, age at transplantation, and stage of disease progression, among others. Stud- ies on long-term outcomes are considered a key factor in the use of HSCT in patients with MPS. These studies have shown the effects and limitations of HSCT on improving disease manifestations and quality of life. In this review, we summarize the efficacy, side effects, risks, and cost of HSCT for each type of MPS. © 2019 American Society for Blood and Marrow Transplantation. Key Words: Allogenic hematopoietic stem cell transplantation Mucopolysaccharidoses Enzyme replacement therapy Limitations Outcomes INTRODUCTION Mucopolysaccharidoses (MPS) are a group of genetic lyso- somal storage disorders (LSDs). Individuals with MPS lack a specific enzyme in the lysosome, which degrades glycosamino- glycans (GAGs) in numerous body tissues. Deficiency of the Financial disclosure: See Acknowledgments on page e242. * Correspondence and reprint requests: Shunji Tomatsu, MD, PhD, Professor and Head, Skeletal Dysplasia, Department of Biomedical Research, Nemours/ Alfred I. DuPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803. E-mail address: [email protected] (S. Tomatsu). https://doi.org/10.1016/j.bbmt.2019.02.012 1083-8791/© 2019 American Society for Blood and Marrow Transplantation. Biol Blood Marrow Transplant 25 (2019) e226e246 Biology of Blood and Marrow Transplantation journal homepage: www.bbmt.org
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