新生児スクリーニングで見つかったムコ多糖症乳児に対する早期臍帯血移植の有効性を確認～発症前の介入と酵素補充療法の併用が認知機能とQOL維持に貢献～

2026-05-14 成育医療研究センター

【図：ムコ多糖症の症状進行を防ぐ、先制的な新しい治療アプローチ】

＜関連情報＞

• https://www.ncchd.go.jp/press/2026/0514.html
• https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2848564

ムコ多糖症に対する新生児スクリーニングと早期臍帯血移植 Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis

Hirotoshi Sakaguchi, MD, PhD; Motomichi Kosuga, MD, PhD; Tetsumin So, MD;et al
JAMA Network Open  Published:May 4, 2026
DOI:10.1001/jamanetworkopen.2026.10243

Introduction

Mucopolysaccharidoses types I and II are lysosomal storage disorders characterized by progressive neurocognitive decline and multisystem morbidity.¹ Although hematopoietic cell transplant can stabilize the disease, its benefit is often limited because conventional diagnosis typically occurs only after symptom onset.² We report a case series of infants with mucopolysaccharidoses detected by newborn screening (NBS), in whom presymptomatic intervention was achieved using enzyme replacement therapy (ERT) and reduced-intensity conditioning (RIC)³ cord blood transplant (CBT), combined with intracerebroventricular (ICV) ERT for severe mucopolysaccharidoses type II.