Disease

Niemann-Pick disease, type C, NPC11, 2

Gene

NPC1

Inheritance AR
Current Treatments Miglustat, Miplyffa (arimoclomol) and Aqneursa (levacetylleucine)
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test oxysterol analysis3
Disease Frequency (per 100,000) 14
Genes Included in Disease Frequency NPC1, NPC2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Niemann-Pick+Diseases&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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