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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Tiny study tracks safety of enzyme drug for rare disease
Disease control CompletedThis study followed 3 people with acid sphingomyelinase deficiency (ASMD) who had already completed earlier trials of olipudase alfa. The goal was to monitor safety and side effects while they continued receiving the enzyme replacement therapy every two weeks until the drug was o…
Phase 2 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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Blood test uncovers rare diseases in patients with mysterious enlarged spleen
Knowledge-focused CompletedThis study looked for two rare genetic diseases, Gaucher disease and acid sphingomyelinase deficiency (ASMD), in 122 adults with an unexplained enlarged spleen or who had their spleen removed for unknown reasons. Researchers used a simple blood spot test to check enzyme activity …
Sponsor: Fundación Española de Hematología y Hemoterapía • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC
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Why do some kids have an enlarged spleen? new study investigates
Knowledge-focused CompletedThis study examined 60 children under 18 with an unexplained enlarged spleen to see how often rare diseases like Gaucher disease were the cause. Researchers ruled out common reasons first, then tested for specific enzyme deficiencies. The goal was to better understand what hidden…
Sponsor: Sanofi • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC