{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:51:19Z","timestamp":1791366679941,"version":"4.3.1"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T00:00:00Z","timestamp":1785628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T00:00:00Z","timestamp":1785628800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option. Conventional myeloablative regimens are associated with considerable toxicity, whereas reduced\u2010intensity regimens carry an increased risk of graft failure. To address the narrow therapeutic window of busulfan, we developed a pharmacokinetic\u2010guided dosing strategy and evaluated it in a prospective study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Children with GRDs undergoing HSCT received a conditioning regimen comprising fludarabine 40\u2009mg\/m\n                      <jats:sup>2<\/jats:sup>\n                      (days \u22128 to \u22124), anti\u2010thymocyte globulin 2.5\u2009mg\/kg (days \u22124 to \u22122), and once\u2010daily busulfan (days \u22129 to \u22126), with intensive pharmacokinetic monitoring and dose adjustments to achieve target exposure.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Twenty patients with GRDs (median age, 3.6\u2009years) received HSCT with a targeted busulfan\u2010based myeloablative regimen. No engraftment failure occurred. Cumulative incidences of Grade II\u2013IV and Grade III\u2013IV acute graft\u2010versus\u2010host disease and moderate\u2010to\u2010severe chronic graft\u2010versus\u2010host disease were 25%, 5%, and 23%, respectively. Ten\u2010year overall survival, event\u2010free survival, and transplant\u2010related mortality rates were 90%, 90%, and 5%, respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Pharmacokinetic\u2010guided busulfan\u2013fludarabine conditioning achieved reliable engraftment with acceptable toxicity in children with GRDs, supporting its use as a safe, effective HSCT conditioning strategy in vulnerable populations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ejh.70281","type":"journal-article","created":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T22:46:54Z","timestamp":1785710814000},"page":"1369-1377","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prospective Study of Targeted Busulfan\u2013Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases"],"prefix":"10.1111","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4671-0449","authenticated-orcid":false,"given":"Bo Kyung","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine and Hospital  Seoul Republic of Korea"},{"name":"Seoul National University, Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8822-1988","authenticated-orcid":false,"given":"Kyung Taek","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine and Hospital  Seoul Republic of Korea"},{"name":"Seoul National University, Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8758-3074","authenticated-orcid":false,"given":"Jung Yoon","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine and Hospital  Seoul Republic of Korea"},{"name":"Seoul National University, Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7062-0414","authenticated-orcid":false,"given":"Hyun Jin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine and Hospital  Seoul Republic of Korea"},{"name":"Seoul National University, Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung\u2010Sang","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacology and Therapeutics Seoul National University College of Medicine and Hospital  Seoul Republic of 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