Based on long.term intrathecal HPBCD (IT-HPBCD) treatment of 5 patients with age of 1.4-20 years the following results were observed:
- All patients showed rapid disease progression despite treatment with miglustat before IT-HPBCD treatment.
- Some patients showed transient improvement; however, all patients’ conditions stabilized after long-term IT-HPBCD therapy.
- Mild-to-moderate hearing loss was observed in three patients.
- Long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, patients still experience some disease progression.
Long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, the treatment outcome is dependent on the neurological status at the time of diagnosis, and disease progression is not completely inhibited. Awareness of the disease and newborn screening is needed for earlier disease detection. In addition, further optimization of the treatment protocol and additional treatments are needed to improve patient outcomes.
Muneaki Matsuo, Takafumi Sakakibara, Yoshio Sakiyama, Tetsumin So, Motomichi Kosuga, Toshihiko Kakiuchi, Fumio Ichinose, Takuji Nakamura, Yoichi Ishitsuka, Tetsumi Irie (2024) Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C. Brain and Development 46, 207-212. https://doi.org/10.1016/j.braindev.2024.03.002