title: Hematopoietic stem cell transplantation for inborn errors of metabolism: A report from the Research Committee on Transplantation for Inborn Errors of Metabolism of the Japanese Ministry of Health, Labour and Welfare and the Working Group of the Japan Society for Hematopoietic Cell Transplantation.
abstract: A total of 216 patients with IEM were treated by allogeneic HSCT in Japan from 1985 until 2010. The results of UCBT have improved, and the OS rate of UCBT (81.9%) was not different from those of RBMT (87.2%) or UBMT (73.9%) in 2000-2010. However, EFS rates in RBMT (73.2%) and UBMT (62.2%) were better than that in UCBT (49.5%), and the difference between RBMT and UCBT was significant (p = 0.01). The EFS rate of patients conditioned by RIC (74.6%) was comparable or slightly better than in those who underwent MAC with irradiation (57.9%) or without irradiation (54.2%) in 2000-2010. A more pronounced trend was observed toward differential EFS for UCBT in 2000-2010: RIC (62.9%), MAC with irradiation (20.0%), and MAC without irradiation (42.1%). The difference between RIC and MAC with irradiation was significant (p < 0.03). In summary, we report a Japanese registry analysis of HSCT for IEM with improving survival in UCBT. The introduction of RIC after 2000 was considered to contribute to this improvement. UCBT could be recommended for those who lack an HLA-identical sibling donor.
authors.affiliation: Departments of Cell Transplantation and Pediatrics, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Shunichi
authors.initials: S
authors.lastname: Kato
authors.affiliation: Departments of Cell Transplantation and Pediatrics, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Yabe
authors.affiliation: Departments of Cell Transplantation and Pediatrics, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Hiromitsu
authors.initials: H
authors.lastname: Takakura
authors.affiliation: Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Mugishima
authors.affiliation: Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: Mika
authors.initials: M
authors.lastname: Ishige
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Akemi
authors.initials: A
authors.lastname: Tanaka
authors.affiliation: Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital, Nagoya, Aichi, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Kato
authors.affiliation: Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital, Nagoya, Aichi, Japan.
authors.forename: Nao
authors.initials: N
authors.lastname: Yoshida
authors.affiliation: Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Souichi
authors.initials: S
authors.lastname: Adachi
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Suita, Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Suita, Japan.
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Hashii
authors.affiliation: Department of Gene Therapy, Institute of DNA Medicine, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Toya
authors.initials: T
authors.lastname: Ohashi
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
authors.forename: Yoji
authors.initials: Y
authors.lastname: Sasahara
authors.affiliation: Medical Education Development Center, Gifu University School of Medicine, Gifu, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Suzuki
authors.affiliation: Department of Pediatrics and Data Center, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Tabuchi
mesh_terms: D000293:Adolescent; D000483:Alleles; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D046528:Chimerism; D036101:Cord Blood Stem Cell Transplantation; D003625:Data Collection; D005260:Female; D006086:Graft vs Host Disease; D006680:HLA Antigens / Q000235:genetics; D018380:Hematopoietic Stem Cell Transplantation; D006650:Histocompatibility Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D053208:Kaplan-Meier Estimate; D008297:Male; D008661:Metabolism, Inborn Errors / Q000628:therapy*; D012042:Registries; D012107:Research Design; D012189:Retrospective Studies; D012955:Societies, Medical; D011795:Surveys and Questionnaires; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D006680:HLA Antigens
keywords: hematopoietic stem cell transplantation; inborn errors of metabolism; national survey