Niemann-Pick disease
MONDO:0001982A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.
Also known as: Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form, lipoid histiocytosis (classical phosphatide), sphingomyelin/cholesterol lipidosis, type A Niemann-Pick disease
28 clinical trials for this condition and its sub-types, 10 tagged with Niemann-Pick disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Niemann-Pick disease
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Niemann-Pick disease type C 12 trials · 13 incl. sub-types
7 sub-types
- Niemann-Pick disease, type C1 2 trials
- Niemann-Pick disease, type C2 1 trial
- Niemann-Pick disease type C, adult neurologic onset 0 trials
- Niemann-Pick disease type C, juvenile neurologic onset 0 trials
- Niemann-Pick disease type C, late infantile neurologic onset 0 trials
- Niemann-Pick disease type C, severe early infantile neurologic onset 0 trials
- Niemann-Pick disease type C, severe perinatal form 0 trials
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Acid sphingomyelinase deficiency 7 trials · 10 incl. sub-types
2 sub-types
- Niemann-Pick disease type A 4 trials
- Niemann-Pick disease type B 1 trial
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Niemann-Pick disease type E 0 trials
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Experimental cell shot aims to boost brain repair in kids with rare metabolic diseases
Disease control Recruiting nowThis early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…
Phase 1 • Sponsor: Joanne Kurtzberg, MD • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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Eye camera could spot Alzheimer's and Parkinson's early
Diagnosis Recruiting nowThis study is testing a non-invasive eye camera that takes pictures of the retina using different colors of light. Researchers want to see if these images can help detect signs of Alzheimer's, Parkinson's, and other neurodegenerative diseases. About 930 adults over age 30 with or…
Sponsor: Center for Eye Research Australia • Aim: Diagnosis
Last updated Jun 27, 2026 12:23 UTC
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New study tracks safety of enzyme therapy in babies with rare genetic disease
Knowledge-focused Recruiting nowThis study follows up to 10 children under 2 years old with acid sphingomyelinase deficiency (ASMD) who are already receiving olipudase alfa (Xenpozyme®) as part of their routine care. Researchers will monitor side effects and immune responses over 1 to 3 years. No new treatment …
Sponsor: Sanofi • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Simple blood test may uncover rare diseases in myeloma patients
Knowledge-focused Recruiting nowThis study aims to find out how many people with an enlarged spleen or certain blood disorders (like multiple myeloma) also have Gaucher disease or acid sphingomyelinase deficiency (ASMD). Researchers will use a simple blood spot test to check for these rare conditions. The goal …
Sponsor: Fundación Española de Hematología y Hemoterapía • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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Major study tracks rare brain diseases to unlock their secrets
Knowledge-focused Recruiting nowThis study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC