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 offers hope for fatal nerve disease
Disease control Recruiting nowThis study tests a gene therapy for GM1 gangliosidosis, a fatal disorder that destroys nerve cells. The therapy uses a harmless virus to deliver a working gene, helping the body produce a missing enzyme. Up to 54 children with Type I (ages 6-12 months) or Type II (ages 1-12 years…
Phase 1/2 • Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Disease control
Last updated Sep 13, 2026 00:00 UTC
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Gene therapy may free kids from daily cystinosis meds
Disease control Recruiting nowThis study tests a gene therapy called DFT383 in 30 children aged 2 to 5 with nephropathic cystinosis, a rare disease that damages kidneys and other organs. The treatment aims to fix the genetic problem so children may no longer need daily cysteamine medication. Researchers will …
Phase 1/2 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Aug 02, 2026 00:00 UTC
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One-Time gene therapy could change pompe disease treatment
Disease control Recruiting nowThis study tests a single intravenous dose of a gene therapy called AB-1009 in 12 adults with late-onset Pompe disease. Participants must have been on enzyme replacement therapy for at least 6 months. The main goal is to check safety and side effects, while also seeing if the tre…
Phase 1/2 • Sponsor: AskBio Inc • Aim: Disease control
Last updated Jul 22, 2026 00:00 UTC
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New Real-World study tracks fabry Drug's Long-Term impact on heart and kidneys
Disease control Recruiting nowThis study follows 75 adults with Fabry disease who are taking or starting pegunigalsidase alfa to see how well it works and how safe it is over time in real-world settings. Researchers will check heart structure and function, kidney health, and exercise capacity. The goal is to …
Sponsor: Chiesi Italia • Aim: Disease control
Last updated Jul 10, 2026 00:00 UTC
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Gene therapy breakthrough offers hope for rare heart disease
Disease control Recruiting nowThis study tests a gene therapy called RP-A501 in 14 males with Danon disease, a rare genetic condition that causes heart problems. The treatment uses a harmless virus to deliver a working copy of the LAMP2 gene, aiming to improve heart muscle function and reduce thickening. Part…
Phase 2 • Sponsor: Rocket Pharmaceuticals Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:28 UTC
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Rare disease study seeks clues for future treatments
Knowledge-focused Recruiting nowThis study tracks the natural course of fucosidosis, a rare genetic disorder, in up to 57 people. It collects medical history and ongoing health data without giving any experimental treatment. The goal is to better understand the disease and help design future therapies.
Sponsor: JCR Pharmaceuticals Co., Ltd. • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC
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Scientists track rare brain diseases to unlock clues for future treatments
Knowledge-focused Recruiting nowThis study follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Search for NPC clues could speed future treatments
Knowledge-focused Recruiting nowThis study aims to find biological markers that can track the progression of Niemann-Pick type C (NPC), a rare genetic disorder that damages the nervous system. Researchers will evaluate 900 patients of any age through regular checkups, spinal taps, eye exams, and brain scans. Th…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Sep 11, 2026 00:00 UTC
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100,000 newborns to be screened for rare diseases in france
Knowledge-focused Recruiting nowThis study will screen about 100,000 newborns in Normandy, France for two rare lysosomal storage diseases: MPS1 and Pompe disease. Researchers will take an extra blood sample from each baby to see how many have these conditions. The goal is to understand how common these diseases…
Sponsor: University Hospital, Rouen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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New registry aims to unlock secrets of rare childhood diseases
Knowledge-focused Recruiting nowThis study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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Major study tracks rare brain diseases to unlock their secrets
Knowledge-focused Recruiting nowThis study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC