Niemann Pick C (NPC): monitoring and treatment
Evidence-based neurology checklist on niemann pick c (npc): monitoring and treatment: 6-12 monthly assessments Psychiatric symptoms Cognitive function Eye movement disorders Swallowing function: in children 12 monthly assessments Miglustat Other treatments Investigational treatments
6-12 monthly assessments
- Psychiatric symptoms
- Cognitive function
- Eye movement disorders
- Swallowing function: in children
12 monthly assessments
Miglustat
Other treatments
Investigational treatments
References
- Geberhiwot T, Moro A, Dardis A, et al; International Niemann-Pick Disease Registry (INPDR). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis 2018; 13:50.
- Bowman EA, Walterfang M, Abel L, Desmond P, Fahey M, Velakoulis D. Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. J Neurol 2015; 262:2106-2114.
- Ory DS, Ottinger EA, Farhat NY, et al. Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet 2017; 390:1758-1768.
- Bremova-Ertl T, Ramaswami U, Brands M, et al. Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C. N Engl J Med 2024; 390:421-431.
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