Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C

Niemann –Pick type C (NPC) is a rare lysosomal storage disease characterized by hepatosplenomegaly and progressive neurological deterioration due to abnormal intracellular cholesterol transport. Cyclic oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HPBCD) is an effective treatment for NPC; however, few reports have shown its long-term efficacy and safety. To demonstrate long-term efficacy and safety of intrathecal HPBCD (IT-HPBCD) treatment for NPC, we herein reports five patients with NPC treated using IT-HPBCD for 4–11 years.

Source: Brain and Development - March 6, 2024 Category: Neurology Authors: Muneaki Matsuo, Takafumi Sakakibara, Yoshio Sakiyama, Tetsumin So, Motomichi Kosuga, Toshihiko Kakiuchi, Fumio Ichinose, Takuji Nakamura, Yoichi Ishitsuka, Tetsumi Irie Tags: Original Article Source Type: research