第19巻 2023年8月　第3号

■特集〔遺伝子治療update：日本医科大学の遺伝子治療研究（6）〕

異染性白質ジストロフィー（MLD）に対する遺伝子治療
三宅　紀子
日本医科大学生化・分子生物学（分子遺伝学）

Gene Therapy for Metachromatic Leukodystrophy; MLD
Noriko Miyake
Department of Biochemistry and Molecular Biology, Nippon Medical School

Lysosomal storage diseases (LSDs) are a heterogeneous group of diseases caused by genetically determined defects in lysosomal enzymes. Specific molecular mechanisms and disease phenotypes depend on the type of storage material affected. Current treatments for LSDs include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) from allogeneic healthy individuals. However, those approaches are applicable only to a limited number of LSDs and lack efficacy for some clinical conditions. Hematopoietic stem cell gene therapy (HSC-GT) incorporating lentiviral vectors has shown strong clinical efficacy when administered to patients with metachromatic leukodystrophy (MLD) and is now registered as a pharmaceutical product. More recently, HSC-GT has also shown promising results in patients with Hurler's syndrome. Here, we report on the treatment for MLD currently being used in clinical practice and the gene therapy for MLD being studied at Nippon Medical School.

日医大医会誌 2023; 19(3), 224-228

Key words
hematopoietic stem cell transplantation, blood-brain barrier, adeno-associated virus vector, neonatal gene therapy, intrathecal administration

Correspondence to
Noriko Miyake, Department of Biochemistry and Molecular Biology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8602, Japan
E-mail：noriko@nms.ac.jp

受付：2023年5月2日　受理：2023年7月3日