Lysosomal lipid storage disorder
MONDO:0019245An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
Also known as: inborn error of lipid storage, lipid storage disease, lipoid storage disease, lipoid storage disorder, rare inborn error of lipid storage, lipidoses, lipidosis, lipoidoses
192 clinical trials for this condition and its sub-types, 2 tagged with Lysosomal lipid storage disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Lysosomal lipid storage disorder
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Sphingolipidosis 6 trials · 166 incl. sub-types
11 sub-types
- Fabry disease 64 trials
- Gaucher disease 46 trials Sub-types →
- Gangliosidosis 3 trials · 24 incl. sub-types Sub-types →
- Niemann-Pick disease 10 trials · 22 incl. sub-types Sub-types →
- Metachromatic leukodystrophy 20 trials Sub-types →
- Krabbe disease 15 trials Sub-types →
- Mucosulfatidosis 4 trials
- ASAH1-related sphingolipidosis 0 trials · 1 incl. sub-types Sub-types →
- PSAP-related sphingolipidosis 0 trials · 1 incl. sub-types Sub-types →
- Autosomal recessive cerebellar ataxia with late-onset spasticity 0 trials
- Sea-blue histiocyte syndrome 0 trials
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Cerebral lipidosis with dementia 0 trials · 38 incl. sub-types
8 sub-types
- Sandhoff disease 13 trials Sub-types →
- Tay-Sachs disease 13 trials Sub-types →
- Gaucher disease type I 12 trials
- Cerebrotendinous xanthomatosis 6 trials
- Juvenile neuronal ceroid lipofuscinosis 6 trials Sub-types →
- Adult Krabbe disease 0 trials
- Adult neuronal ceroid lipofuscinosis 0 trials Sub-types →
- Infantile neuronal ceroid lipofuscinosis 0 trials Sub-types →
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Neuronal ceroid lipofuscinosis 6 trials · 23 incl. sub-types
14 sub-types
- Neuronal ceroid lipofuscinosis 3 12 trials Sub-types →
- Neuronal ceroid lipofuscinosis 2 8 trials Sub-types →
- Juvenile neuronal ceroid lipofuscinosis 6 trials Sub-types →
- Ceroid lipofuscinosis, neuronal, 6A 4 trials Sub-types →
- Neuronal ceroid lipofuscinosis 7 2 trials
- Neuronal ceroid lipofuscinosis 8 1 trial · 2 incl. sub-types Sub-types →
- Neuronal ceroid lipofuscinosis 1 1 trial Sub-types →
- Neuronal ceroid lipofuscinosis 10 1 trial Sub-types →
- Neuronal ceroid lipofuscinosis 5 1 trial Sub-types →
- Adult neuronal ceroid lipofuscinosis 0 trials Sub-types →
- Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 trials
- Congenital neuronal ceroid lipofuscinosis 0 trials
- Infantile neuronal ceroid lipofuscinosis 0 trials Sub-types →
- Progressive myoclonic epilepsy type 3 0 trials
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Xanthomatosis 2 trials · 8 incl. sub-types
1 sub-type
- Cerebrotendinous xanthomatosis 6 trials
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Lysosomal acid lipase deficiency 4 trials · 6 incl. sub-types
2 sub-types
- Wolman disease 6 trials
- Cholesteryl ester storage disease 1 trial
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Neutral lipid storage disease 1 trial · 2 incl. sub-types
3 sub-types
- Dorfman-Chanarin disease 1 trial
- Triglyceride deposit cardiomyovasculopathy 1 trial Sub-types →
- Neutral lipid storage myopathy 0 trials
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Triglyceride storage disease 0 trials
2 sub-types
- Triglyceride storage disease, type 1 0 trials
- Triglyceride storage disease, type 2 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 cell therapy targets deadly childhood brain cancer
Disease control Stopped earlyThis early-phase trial tested a new immunotherapy approach for children with DIPG, a rare and aggressive brain stem tumor. After standard radiation and chemotherapy, patients received special vaccines and immune cells designed to attack the tumor. The study was small (11 particip…
Phase 1 • Sponsor: University of Florida • Aim: Disease control
Last updated Jun 27, 2026 07:55 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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Russian study seeks hidden cases of rare liver disease in kids
Knowledge-focused Stopped earlyThis study looks at children and teens in Russia who may have a rare genetic condition called lysosomal acid lipase deficiency (LAL-D). Researchers will check for the disease in up to 1,200 participants using blood tests and genetic testing. The goal is to understand how often LA…
Sponsor: AstraZeneca • Aim: Knowledge-focused
Last updated Jul 10, 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