Lysosomal storage disease

MONDO:0002561

A 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.

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Where it sits in the disease tree

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Part of

↑ Inborn errors of metabolism (2231)

Sub-types of Lysosomal storage disease

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 →
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
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
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 →
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 →
Late infantile neuronal ceroid lipofuscinosis 1 trial · 5 incl. sub-types
3 sub-types
- Ceroid lipofuscinosis, neuronal, 6A 4 trials Sub-types →
- Neuronal ceroid lipofuscinosis 7 2 trials
- Neuronal ceroid lipofuscinosis 5 1 trial Sub-types →
Disorder of sialic acid metabolism 0 trials · 1 incl. sub-types
1 sub-type
- Sialuria 1 trial
Glycoprotein storage disease 0 trials
Hereditary spastic paraplegia 48 0 trials
Lysosomal acid phosphatase deficiency 0 trials
Pycnodysostosis 0 trials

Most studied deeper sub-types

Fabry disease (64) Gaucher disease (46) Metachromatic leukodystrophy (20) Glycogen storage disease due to acid maltase deficiency, late-onset (19) Krabbe disease (15) GM2 gangliosidosis (14) Sandhoff disease (13) Tay-Sachs disease (13) Gaucher disease type I (12) Gaucher disease type III (12) GM1 gangliosidosis (12) Neuronal ceroid lipofuscinosis 3 (12) Niemann-Pick disease type C (12) Niemann-Pick disease (10) Glycogen storage disease due to acid maltase deficiency, infantile onset (9) Mucopolysaccharidosis type 4A (8) Neuronal ceroid lipofuscinosis 2 (8) Acid sphingomyelinase deficiency (7) Mucopolysaccharidosis type 3A (7) Cerebrotendinous xanthomatosis (6)

Including sub-types (303) Tagged with Lysosomal storage disease (38)

Trials to join now! 11 Not yet recruiting 2 Not yet finished but already full! 7 Completed 11 Terminated 7

Lysosomal storage disease

Where it sits in the disease tree

Most studied deeper sub-types

One-Time gene therapy aims to halt sanfilippo syndrome

Can a repurposed drug slow rare childhood brain diseases?