Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening

Ueda, Yuki; Hirabayashi, Shinsuke; Miura, Masayuki; Yamada, Satoshi; Nakakubo, Sachiko; Nakajima, Midori; Goto, Takeru; Abe, Jutaro; Terashita, Yukayo; Manabe, Atsushi; Okuyama, Torayuki; Egawa, Kiyoshi

Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening

Ueda, Yuki; Hirabayashi, Shinsuke; Miura, Masayuki et al.

International Journal of Neonatal Screening, 2026, 12(3)

Permalink : https://hdl.handle.net/2115/100107

このアイテムのアクセス数:39件（2026-08-24 20:32 集計）

閲覧可能ファイル

ファイル	フォーマット	サイズ	閲覧回数	説明
https://doi.org/10.3390/ijns12030047			6

論文情報

ファイル出力 EndNote Basic出力 Mendeley出力

アクセス権	open access
URI	https://hdl.handle.net/2115/100107
タイトル	Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening
著者	Ueda, Yuki ; Hirabayashi, Shinsuke ; Miura, Masayuki ; Yamada, Satoshi ; Nakakubo, Sachiko ; Nakajima, Midori ; Goto, Takeru ; Abe, Jutaro ; Terashita, Yukayo ; Manabe, Atsushi ; Okuyama, Torayuki ; Egawa, Kiyoshi
ORCID 0000-0002-6760-6766 著者名 Ueda, Yuki
ORCID 0000-0001-7961-0968 著者名 Hirabayashi, Shinsuke
著者名 Miura, Masayuki
著者名 Yamada, Satoshi
著者名 Nakakubo, Sachiko
著者名 Nakajima, Midori
著者名 Goto, Takeru
著者名 Abe, Jutaro
ORCID 0000-0003-1700-5337 著者名 Terashita, Yukayo
ORCID 0000-0002-6698-2348 著者名 Manabe, Atsushi
著者名 Okuyama, Torayuki
ORCID 0000-0001-8224-7012 著者名 Egawa, Kiyoshi
言語	英語
キーワード	mucopolysaccharidosis type II
	intracerebroventricular administration
	enzyme replacement therapy
	cord blood transplantation
発行日	2026-06-26
出版者	MDPI
収録物名	International Journal of Neonatal Screening
巻(号)	12(3)
ページ数	11
抄録	Enzyme replacement therapy (ERT) for central nervous system symptoms and newborn screening (NBS) is available in Japan for patients with mucopolysaccharidosis type II (MPS II). Of 12 suspected cases identified through the NBS program, 3 patients were diagnosed with neuronopathic MPS II (2 directly from the screened cohort and 1 affected sibling). We reviewed the clinical courses of these patients, who were treated with intracerebroventricular (ICV) ERT using idursulfase beta (Hunterase®) followed by umbilical cord blood transplantation (CBT). Heparan sulfate (HS) in the cerebrospinal fluid (CSF) was longitudinally measured as a therapeutic biomarker, and developmental age was evaluated. All patients achieved successful engraftment with no severe complications, except for one patient with sinusoidal obstruction syndrome. The CSF HS concentration showed a temporary increase during the ERT discontinuation period, which can be attributed to CBT, and a subsequent reduction after the resumption of ICV-ERT. The patients exhibited age-appropriate development. The pattern of change in HS indicates the importance of continuing ICV-ERT even after hematopoietic stem cell transplantation. The study results demonstrate that the combination of ICV-ERT and CBT may yield promising outcomes in patients with neuronopathic MPS II, underscoring the importance of early intervention through NBS.
資源タイプ	学術雑誌論文
出版タイプ	Version of Record
EISSN	2409-515X
関連情報 (isIdenticalTo)	出版社版DOI https://doi.org/10.3390/ijns12030047