Disease

Niemann-Pick disease, type A and type B1, 2, 3

Gene

SMPD1

Inheritance AR
Current Treatments recombinant human acid sphingomyelinase enzyme replacement therapy - Xenpozyme - olipudase alfa, migulstat
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test leukocyte acid sphingomyelinase enzyme activity1
Disease Frequency (per 100,000) 0.914
Genes Included in Disease Frequency SMPD1
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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