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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Can a One-Time gene therapy fix fabry disease for years?
Cure Stopped earlyThis study follows people with Fabry disease who have already received FLT190, an experimental gene therapy that delivers a working copy of the GLA gene. The goal is to see how safe the treatment is over the long term and whether its effects last. Researchers will track participa…
Phase 1/2 • Sponsor: Spur Therapeutics • Aim: Cure
Last updated Sep 05, 2026 00:00 UTC
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Can a single gene infusion rewrite the story of fabry disease?
Cure Stopped earlyThis trial is testing a gene therapy called FLT190 in adult men with classic Fabry disease, a genetic condition that causes harmful fat buildup in cells. The therapy uses a modified virus to deliver a working copy of the faulty gene, potentially enabling the body to produce the m…
Phase 1/2 • Sponsor: Spur Therapeutics • Aim: Cure
Last updated Sep 05, 2026 00:00 UTC
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Hope fades: trial of Tay-Sachs drug venglustat terminated early
Disease control Stopped earlyThis Phase 3 trial tested an oral drug called venglustat in 75 adults and children with late-onset Tay-Sachs or Sandhoff disease, rare genetic disorders that cause progressive nerve damage. The drug aimed to lower toxic fat buildup in the brain and slow disease worsening. However…
Phase 3 • Sponsor: Genzyme, a Sanofi Company • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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Experimental drug zavesca tested for rare fatal brain diseases in infants
Disease control Stopped earlyThis phase 3 trial tested the drug miglustat (Zavesca) in 30 infants with Sandhoff or Tay-Sachs diseases, rare genetic disorders that destroy nerve cells. The goal was to see if the drug could reduce hospitalizations, seizures, and feeding problems while improving motor function.…
Phase 3 • Sponsor: Tehran University of Medical Sciences • Aim: Disease control
Last updated Jun 26, 2026 17:51 UTC
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Experimental gene therapy targets Tay-Sachs and sandhoff in kids
Disease control Stopped earlyThis early-stage trial tested a gene therapy called AXO-AAV-GM2 in children with Tay-Sachs or Sandhoff disease, rare and fatal genetic brain disorders. The therapy delivers healthy genes directly into the brain and spinal fluid to try to restore a missing enzyme. The study was te…
Phase 1 • Sponsor: Terence Flotte • Aim: Disease control
Last updated Jun 26, 2026 13:03 UTC
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Home infusions may help patients stick to treatment
Knowledge-focused Stopped earlyThis study looks at whether people with Fabry, Gaucher, or Hunter disease are more likely to continue their IV treatment when it's given at home versus at a hospital. Researchers will review existing data from 222 patients in Mexico. No new treatments are given; the goal is to un…
Sponsor: Takeda • Aim: Knowledge-focused
Last updated Sep 13, 2026 00:00 UTC
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Scientists dive into rare cholesterol disorders to uncover clues
Knowledge-focused Stopped earlyThis study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 14, 2026 00:00 UTC
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Fabry disease sperm study halted early
Knowledge-focused Stopped earlyThis study aimed to find out how common sperm problems are in men with Fabry disease. Researchers planned to check sperm samples from 22 men aged 18 to 65. The study was stopped early, so results are limited.
Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Gene therapy for krabbe disease: did it last?
Knowledge-focused Stopped earlyThis study follows up on children with Krabbe disease who received a one-time gene therapy infusion (FBX-101) in earlier trials. Researchers will monitor safety and measure motor skills over time. Only 2 participants are enrolled, so results are very limited.
Sponsor: Forge Biologics, Inc • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:47 UTC