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. As of November 11, 2026, a child under 2 who weighs less than 15kg falls outside both FDA-approved NPC drugs, Miplyffa (from age 2, with miglustat) and Aqneursa (from 15kg). Each of the 4 NPC drug studies recruiting or about to recruit in the federal trials registry starts at age 4, according to Trial Friend's check of the 2 labels and the trial records.

Yes. As of October 21, 2026, 2 FDA-approved medicines have a current label that names Niemann-Pick Disease Type C: Aqneursa (levacetylleucine), first approved in 2024; and Miplyffa (arimoclomol), first approved in 2024. Corticosteroids and immune globulins count once each. The FDA is due to decide on Adrabetadex by November 17, 2026; the FDA calendar page carries the outcome the day it lands.

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.