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
302 clinical trials for this condition and its sub-types, 37 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 · 61 incl. sub-types
8 sub-types
- Mucopolysaccharidosis type 2 24 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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Experimental gene therapy aims to halt devastating brain disease in infants
Disease control PausedThis study tests a gene therapy called PBKR03 for babies with early infantile Krabbe disease, a severe genetic disorder that damages the brain and nerves. The treatment delivers a working copy of the GALC gene to the brain and body. Researchers will check safety and find the best…
Phase 1/2 • Sponsor: Gemma Biotherapeutics • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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One-Time gene therapy aims to halt rare, fatal brain disease in children
Disease control OngoingThis study tests a single dose of PBGM01, a gene therapy delivered directly into the fluid around the brain and spinal cord, in children with GM1 gangliosidosis. The therapy uses a harmless virus to carry a working copy of the GLB1 gene, which is missing or faulty in these patien…
Phase 1/2 • Sponsor: Gemma Biotherapeutics • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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Gene therapy after stem cell transplant shows promise for rare brain disease
Disease control OngoingThis study tests a one-time gene therapy infusion (FBX-101) given after a standard stem cell transplant in 6 children with infantile Krabbe disease, a severe genetic disorder affecting the nervous system. The therapy uses a harmless virus to deliver a working copy of the GALC gen…
Phase 1/2 • Sponsor: Forge Biologics, Inc • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Gene therapy boost for krabbe patients after transplant
Disease control OngoingThis early-phase trial tests a single infusion of a gene therapy called FBX-101 in 9 people with Krabbe disease who have already received a stem cell transplant. The therapy uses a harmless virus to deliver a working copy of the GALC gene, aiming to improve motor function and saf…
Phase 1/2 • Sponsor: Forge Biologics, Inc • Aim: Disease control
Last updated Jun 27, 2026 07:59 UTC
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Gene therapy hope for rare brain disease in children
Disease control OngoingThis study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Resea…
Phase 3 • Sponsor: Orchard Therapeutics • Aim: Disease control
Last updated Jun 26, 2026 13:33 UTC
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NIH launches major study to unravel mysteries of rare genetic diseases
Knowledge-focused By invitation onlyThis study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC