Niemann-Pick Disease Type C (NP-C) Clinical Trials

Niemann-Pick Disease Type C results from mutations in NPC1 gene (95% of cases) or NPC2 gene (5% of cases), which encode proteins essential for intracellular lipid trafficking and metabolism. These proteins are required for proper movement of cholesterol and other lipids from lysosomes to other cellular compartments. Loss of NPC1 or NPC2 function impairs this lipid transport, leading to lysosomal accumulation of unesterified cholesterol, glycosphingolipids, and other lipids.

The most common symptoms of Niemann-Pick Disease Type C include Progressive neurological decline including ataxia and gait disturbance, Vertical supranuclear gaze palsy or eye movement abnormalities, Cognitive decline and behavioral changes, Dystonia and involuntary movements, Seizures developing later in disease course, among others. Approximately 1 per 100,000 to 1 per 150,000 live births; higher in certain populations. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Niemann-Pick Disease Type C 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 Type C is advancing through multiple approaches to slow the devastating neurological progression that characterizes this condition. The FDA has approved 2 drugs for the neurological symptoms of NPC, both in September 2024: Miplyffa (arimoclomol), taken together with miglustat by adults and children 2 years and older, on September 20, and Aqneursa (levacetylleucine), for adults and children weighing at least 15 kg, on September 24.

Yes. As of September 2026, Trial Friend lists 2 FDA-approved drugs used to treat Niemann-Pick Disease Type C: Miplyffa (arimoclomol), first approved in 2024; and Aqneursa (levacetylleucine), first approved in 2024.

Each has its own page with what the label covers, side effects and how it is given, and the Treatments section of this page adds any further approved drugs found in FDA labeling data.

Niemann-Pick Disease Type C is caused by variants in the NPC1 and NPC2 genes. NPC1 causes the large majority; NPC2 the remainder. Types A and B are a different gene (SMPD1).

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. Approximately 1 per 100,000 to 1 per 150,000 live births; higher in certain populations. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Niemann-Pick Disease Type C looks at the NPC1 and NPC2 genes. NPC1 causes the large majority; NPC2 the remainder. Types A and B are a different gene (SMPD1).

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 Type C 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 Type C 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.