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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Cough medicine repurposed for rare brain disease in kids
Disease control CompletedThis study tested high doses of Ambroxol, a common cough medicine, in 12 children aged 3 to 18 with Type 3 Gaucher disease, a rare genetic disorder affecting the brain and body. The goal was to see if it is safe and can improve movement problems like ataxia. The trial took place …
Sponsor: Agyany Pharma LTD • Aim: Disease control
Last updated Aug 26, 2026 00:00 UTC
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Experimental gene therapy aims to fix cystinosis at the source
Disease control CompletedThis early-phase trial tested a gene therapy for cystinosis, a rare genetic disorder that causes cystine crystals to build up in cells, damaging organs. Researchers took blood stem cells from 6 patients, added a working copy of the faulty gene, and infused the corrected cells bac…
Phase 1/2 • Sponsor: University of California, San Diego • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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One-Time gene therapy could change fabry disease treatment
Disease control CompletedThis trial tested a new gene therapy called ST-920 for Fabry disease, a rare genetic condition. The therapy uses a harmless virus to deliver a working gene that helps the body produce an enzyme it's missing. 36 adults with Fabry disease received a single intravenous dose and were…
Phase 1/2 • Sponsor: Sangamo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
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Gene therapy shows promise for rare fatal brain disease in kids
Disease control CompletedThis study tested a gene therapy called OTL-200 in 10 children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. The treatment uses the child's own blood stem cells, modified to produce a missing enzyme, and aims to slow or stop disease progres…
Phase 2 • Sponsor: Orchard Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 11:01 UTC
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Gene therapy offers hope for children with rare brain disease
Disease control CompletedThis study tested a gene therapy for children with metachromatic leukodystrophy (MLD), a rare, inherited brain disease that causes severe disability and early death. The treatment uses the child's own blood stem cells, which are modified in a lab to carry a working copy of the mi…
Phase 1/2 • Sponsor: Orchard Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:02 UTC
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Home breathing training shows promise for pompe patients
Symptom relief CompletedThis study tested whether high-dose inspiratory muscle training (IMT) using a handheld device is safe and feasible for people with late-onset Pompe disease. 34 adults with stable Pompe disease did remote breathing exercises. Researchers measured changes in respiratory strength an…
Sponsor: Duke University • Aim: Symptom relief
Last updated Jun 27, 2026 07:53 UTC
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Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Scanners peer into brains of gaucher and parkinson patients
Knowledge-focused CompletedThis completed study used PET and MRI scans to compare brain dopamine function in people with Gaucher disease or Parkinson disease, their family members, and healthy volunteers. Researchers aimed to see if certain genetic mutations cause early changes in dopamine storage. The stu…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC
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Scientists hunt for missing genetic clues in mystery diseases
Knowledge-focused CompletedThis study aimed to find new genetic changes that might cause inherited diseases, especially in people who already have a diagnosis but whose genetic tests were not clear. Researchers studied 56 patients and their family members to look for hidden variants in parts of the DNA tha…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Rare disease study tracks GM1 progression to pave way for future treatments
Knowledge-focused CompletedThis study followed 31 children with infantile or juvenile GM1 gangliosidosis, a rare and severe genetic disorder, for up to 3 years. Researchers collected data from exams, blood tests, and developmental assessments to better understand how the disease progresses. The goal was to…
Sponsor: University of Pennsylvania • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC
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New study maps how rare brain diseases worsen over time in kids
Knowledge-focused CompletedThis study followed 31 children with GM1 or GM2 gangliosidosis (including Tay-Sachs and Sandhoff disease) to carefully measure how their neurological symptoms, like walking and speech, change over time. The goal was to create a clear picture of disease progression to help design …
Sponsor: Azafaros B.V. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC