Abstracts

Rationale: Niemann-Pick Type C (NPC) is a rare and progressive disease with nonspecific electroencephalogram (EEG) findings. The relationship between EEG findings, clinical progression and intrathecal ߭cyclodextrin-hydroxypropyl (HBP-CD) can lead to a neurophysiological biomarker. Methods: The patient was diagnosed with NPC December 2012. An EEG was performed prior to starting medication to correlate with clinical presentation. It was repeated every 6 months as per protocol, with additional EEGs as clinically indicated. Administration of intrathecal HBP-CD every other week, during a sedated lumbar puncture, began October 2014. An investigational new drug application was approved and consent was obtained. Initial dose of intrathecal HBP-CD was 200 mg. Dose increased to 400 mg May 2015 and 600 mg October 2015. Results: Initial EEG demonstrated mild encephalopathy with epileptiform discharges. After 6 months of treatment the EEG background became normal and no epileptiform activity was seen. The patient had received 38 doses at the time of this submission. Background has remained normal. One subclinical seizure was recorded, but further prolonged recordings demonstrated no epileptiform activity. The NPC severity scale has stabilized since starting the protocol. Clinical course has mildly improved after starting treatment, correlating with EEG findings. No change in audiology result when increasing doses of HBP-CD. Conclusions: The patient demonstrated clinical improvement and reversal of EEG abnormalities using intrathecal HBP-CD. It is significant that the treatment is associated with continued stability of the electrographic activity. The correlation of EEG findings, audiology findings and clinical presentation support the increased use of EEG in NPC. Funding: None