Lysosomal storage disease with skeletal involvement
MONDO:0800088Also known as: dysostosis multiplex
64 clinical trials for this condition and its sub-types, 0 tagged with Lysosomal storage disease with skeletal involvement itself.
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Sub-types of Lysosomal storage disease with skeletal involvement
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Mucopolysaccharidosis type 2 25 trials
2 sub-types
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Mucopolysaccharidosis type 4A 8 trials
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Mucopolysaccharidosis type 6 8 trials
2 sub-types
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Mucopolysaccharidosis type 7 8 trials
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Mucopolysaccharidosis type 3A 7 trials
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Hurler syndrome 6 trials
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Mucopolysaccharidosis type 3B 6 trials
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Alpha-mannosidosis 5 trials
3 sub-types
- Alpha-mannosidosis type 1 0 trials
- Alpha-mannosidosis, adult form 0 trials
- Alpha-mannosidosis, infantile form 0 trials
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Aspartylglucosaminuria 4 trials
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Mucosulfatidosis 4 trials
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GM1 gangliosidosis type 1 3 trials
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Hurler-Scheie syndrome 2 trials
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Fucosidosis 2 trials
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Galactosialidosis 2 trials
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Mucopolysaccharidosis type 3C 2 trials
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Scheie syndrome 1 trial
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GNPTG-mucolipidosis 0 trials
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Beta-mannosidosis 0 trials
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Mucolipidosis type II 0 trials
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Mucolipidosis type III, alpha/beta 0 trials
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Mucopolysaccharidosis type 3D 0 trials
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Mucopolysaccharidosis type 4B 0 trials
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Mucopolysaccharidosis-plus syndrome 0 trials
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Sialidosis type 2 0 trials
2 sub-types
- Congenital sialidosis type 2 0 trials
- Juvenile sialidosis type 2 0 trials
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One-Time gene therapy aims to halt sanfilippo syndrome
Cure Not yet recruitingResearchers test a one-time gene therapy infusion in children and adults with Sanfilippo syndrome (MPS IIIB), a rare inherited disease that damages the brain and body. The therapy delivers a working copy of the NAGLU gene to help the body make an enzyme that is missing or faulty.…
Phase 1/2 • Sponsor: NeuroGT • Aim: Cure
Last updated Sep 16, 2026 00:00 UTC
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Hope for sanfilippo kids: Brain-Infused drug enters final testing
Disease control Not yet recruitingThis phase 3 trial tests a drug called tralesinidase alfa in 14 children aged 1-5 with Sanfilippo syndrome type B, a rare genetic disease that causes severe brain damage. The drug is given directly into the brain fluid to replace a missing enzyme. The goal is to see if it can slo…
Phase 3 • Sponsor: Spruce Biosciences • Aim: Disease control
Last updated Sep 21, 2026 14:00 UTC
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Gene therapy before birth: a new hope for babies with GM1 disease
Disease control Not yet recruitingThis early-stage trial tests giving a gene therapy to unborn babies diagnosed with GM1 gangliosidosis, a severe genetic disorder that damages the brain and body. The therapy uses a harmless virus to deliver a working copy of the missing enzyme gene. The main goal is to see if the…
Phase 1 • Sponsor: Tippi Mackenzie • Aim: Disease control
Last updated Sep 02, 2026 00:00 UTC
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Gene therapy hope for rare childhood disease AGU
Disease control Not yet recruitingThis early-stage trial tests a single dose of a gene therapy called DANAGALEX in 9 adults and children with aspartylglucosaminuria (AGU), a rare genetic disorder. The goal is to see if the treatment is safe and can reduce harmful substances in the body. Researchers will monitor s…
Phase 1/2 • Sponsor: Rare Trait Hope • Aim: Disease control
Last updated Jun 27, 2026 12:07 UTC
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Smartphone videos could unlock secrets of rare brain disease
Knowledge-focused Not yet recruitingThis study tracks how Sanfilippo syndrome type C, a rare genetic disorder that affects the brain, progresses over time. Caregivers of children and young adults aged 1 to 25 will record videos of daily activities and answer questionnaires using a smartphone app every six months fo…
Sponsor: Phoenix Nest • Aim: Knowledge-focused
Last updated Jul 19, 2026 00:00 UTC