Lysosomal storage disease
MONDO:0002561A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
Also known as: disorder of lysosomal enzymes, lysosomal disease, lysosomal disorder, lysosomal storage disorder, lysosome disease, lysosome disorder, phospholipidosis
303 clinical trials for this condition and its sub-types, 38 tagged with Lysosomal storage disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Lysosomal storage disease
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Lysosomal lipid storage disorder 2 trials · 192 incl. sub-types
7 sub-types
- Sphingolipidosis 6 trials · 166 incl. sub-types Sub-types →
- Cerebral lipidosis with dementia 0 trials · 38 incl. sub-types Sub-types →
- Neuronal ceroid lipofuscinosis 6 trials · 23 incl. sub-types Sub-types →
- Xanthomatosis 2 trials · 8 incl. sub-types Sub-types →
- Lysosomal acid lipase deficiency 4 trials · 6 incl. sub-types Sub-types →
- Neutral lipid storage disease 1 trial · 2 incl. sub-types Sub-types →
- Triglyceride storage disease 0 trials Sub-types →
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Mucopolysaccharidosis 14 trials · 62 incl. sub-types
8 sub-types
- Mucopolysaccharidosis type 2 25 trials Sub-types →
- Mucopolysaccharidosis type 3 7 trials · 18 incl. sub-types Sub-types →
- Mucopolysaccharidosis type 1 11 trials · 16 incl. sub-types Sub-types →
- Mucopolysaccharidosis type 4 2 trials · 10 incl. sub-types Sub-types →
- Mucopolysaccharidosis type 6 8 trials Sub-types →
- Mucopolysaccharidosis type 7 8 trials
- Mucopolysaccharidosis type 9 1 trial
- Mucopolysaccharidosis, type 10 0 trials
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Lysosomal glycogen storage disease 0 trials · 45 incl. sub-types
2 sub-types
- Glycogen storage disease II 31 trials · 41 incl. sub-types Sub-types →
- Danon disease 5 trials
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Inborn disorder of lysosomal amino acid transport 0 trials · 15 incl. sub-types
2 sub-types
- Cystinosis 12 trials Sub-types →
- Free sialic acid storage disease 2 trials · 3 incl. sub-types Sub-types →
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Glycoproteinosis 0 trials · 14 incl. sub-types
2 sub-types
- Oligosaccharidosis 0 trials · 11 incl. sub-types Sub-types →
- Mucolipidosis 4 trials · 5 incl. sub-types Sub-types →
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Late infantile neuronal ceroid lipofuscinosis 1 trial · 5 incl. sub-types
3 sub-types
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Disorder of sialic acid metabolism 0 trials · 1 incl. sub-types
1 sub-type
- Sialuria 1 trial
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Glycoprotein storage disease 0 trials
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Hereditary spastic paraplegia 48 0 trials
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Pycnodysostosis 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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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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Rare disease study aims to map MLIV's natural course
Knowledge-focused Stopped earlyThis study followed 7 people with Mucolipidosis Type IV (MLIV) to learn how the disease naturally progresses. Researchers used tests like neuropsychological exams, blood and urine tests, and brain MRIs to find better ways to measure the disease. The goal was to improve future cli…
Sponsor: Baylor Research Institute • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:14 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