Niemann-Pick Disease (SMPD1) Clinical Trials and Treatments

Niemann-Pick disease comprises a group of autosomal recessive lysosomal storage disorders affecting sphingomyelin and cholesterol metabolism. Type A and B result from SMPD1 gene mutations affecting acid sphingomyelinase, while Type C results from mutations in NPC1 or NPC2 genes affecting cholesterol trafficking. In all types, lipids accumulate progressively in lysosomes throughout the body.

The most common symptoms of Niemann-Pick Disease include Enlarged liver and spleen, Jaundice in infancy, Developmental delay and learning problems, Progressive neurological decline, Vertical supranuclear gaze palsy (vertical eye movement problems), among others. Type A: 1 in 250,000; Type B: 1 in 100,000 to 150,000; Type C: 1 in 100,000 to 150,000. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Niemann-Pick Disease from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Research in Niemann-Pick disease is advancing with multiple therapeutic approaches in clinical trials. For Type C, the FDA approved 2 drugs for the neurological symptoms of the disease in September 2024: Miplyffa (arimoclomol), taken together with miglustat, on September 20th, and Aqneursa (levacetylleucine) on September 24th.

Yes. As of October 21, 2026, 3 FDA-approved medicines have a current label that names Niemann-Pick Disease: Miplyffa (arimoclomol), first approved in 2024; Aqneursa (levacetylleucine); and Xenpozyme (olipudase alfa-rpcp). Corticosteroids and immune globulins count once each.

Niemann-Pick Disease is caused by variants in the SMPD1, NPC1 and NPC2 genes. Types A and B (acid sphingomyelinase deficiency) are SMPD1; type C is NPC1 in about 95% of cases and NPC2 in the rest.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. Type A: 1 in 250,000; Type B: 1 in 100,000 to 150,000; Type C: 1 in 100,000 to 150,000. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Niemann-Pick Disease looks at the SMPD1, NPC1 and NPC2 genes. Types A and B (acid sphingomyelinase deficiency) are SMPD1; type C is NPC1 in about 95% of cases and NPC2 in the rest.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Niemann-Pick Disease clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Niemann-Pick Disease clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.