Sphingolipidosis
MONDO:0019255An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.
166 clinical trials for this condition and its sub-types, 6 tagged with Sphingolipidosis itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Sphingolipidosis
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Fabry disease 64 trials
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Gaucher disease 46 trials
5 sub-types
- Gaucher disease type I 12 trials
- Gaucher disease type III 12 trials
- Gaucher disease type II 5 trials
- Gaucher disease perinatal lethal 0 trials
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 0 trials
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Gangliosidosis 3 trials · 24 incl. sub-types
2 sub-types
- GM2 gangliosidosis 14 trials · 19 incl. sub-types Sub-types →
- GM1 gangliosidosis 12 trials Sub-types →
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Niemann-Pick disease 10 trials · 22 incl. sub-types
4 sub-types
- Niemann-Pick disease type C 12 trials · 13 incl. sub-types Sub-types →
- Acid sphingomyelinase deficiency 7 trials · 10 incl. sub-types Sub-types →
- Niemann-Pick disease type E 0 trials
- Chronic neurovisceral acid sphingomyelinase deficiency 0 trials
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Metachromatic leukodystrophy 20 trials
2 sub-types
- Metachromatic leukodystrophy, juvenile form 2 trials · 4 incl. sub-types Sub-types →
- Metachromatic leukodystrophy due to saposin B deficiency 0 trials
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Krabbe disease 15 trials
3 sub-types
- Infantile Krabbe disease 2 trials
- Adult Krabbe disease 0 trials
- Late-infantile/juvenile Krabbe disease 0 trials
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Mucosulfatidosis 4 trials
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ASAH1-related sphingolipidosis 0 trials · 1 incl. sub-types
2 sub-types
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PSAP-related sphingolipidosis 0 trials · 1 incl. sub-types
4 sub-types
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Sea-blue histiocyte syndrome 0 trials
Most studied deeper sub-types
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Rare disease mystery: can tracking SPLIS patients unlock its secrets?
Knowledge-focused Recruiting nowThis study follows people with SPLIS, a rare inherited metabolic condition, to map its natural history—how the disease unfolds over time. Researchers will track growth, organ function, quality of life, and survival in about 28 participants. The goal is to understand the full rang…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
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Global krabbe disease registry aims to decode early warning signs
Knowledge-focused Recruiting nowThis study builds a global database of people diagnosed with or at risk for Krabbe disease, a rare nerve disorder. Researchers will track symptoms, genetic mutations, and enzyme levels to find clues that predict when the disease starts and how severe it becomes. The registry also…
Sponsor: State University of New York at Buffalo • Aim: Knowledge-focused
Last updated Jul 19, 2026 00:00 UTC
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New registry aims to unlock secrets of Ultra-Rare SPLIS disease
Knowledge-focused Recruiting nowThis study collects medical and genetic information from people with SPLIS, a rare condition caused by a faulty enzyme. Researchers will track survival and when kidney problems start. No treatments are given, but the registry may help future research.
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC