Mucopolysaccharidosis
MONDO:0019249A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
Also known as: Mucopolysaccharidoses, mucopolysaccharidoses, mucopolysaccharidosis, MPS
62 clinical trials for this condition and its sub-types, 14 tagged with Mucopolysaccharidosis itself.
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Sub-types of Mucopolysaccharidosis
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Mucopolysaccharidosis type 2 25 trials
2 sub-types
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Mucopolysaccharidosis type 3 7 trials · 18 incl. sub-types
4 sub-types
- Mucopolysaccharidosis type 3A 7 trials
- Mucopolysaccharidosis type 3B 6 trials
- Mucopolysaccharidosis type 3C 2 trials
- Mucopolysaccharidosis type 3D 0 trials
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Mucopolysaccharidosis type 1 11 trials · 16 incl. sub-types
3 sub-types
- Hurler syndrome 6 trials
- Hurler-Scheie syndrome 2 trials
- Scheie syndrome 1 trial
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Mucopolysaccharidosis type 4 2 trials · 10 incl. sub-types
3 sub-types
- Mucopolysaccharidosis type 4A 8 trials
- Morquio syndrome C 0 trials
- Mucopolysaccharidosis type 4B 0 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 9 1 trial
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Mucopolysaccharidosis, type 10 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 18:00 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
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Dental scans and AI could spot rare bone diseases faster
Knowledge-focused Not yet recruitingThis study will take 3D scans of the inside of the mouth from 240 people with rare bone or cartilage diseases and from healthy volunteers. Researchers will use shape analysis and artificial intelligence to see if these scans can help tell different diseases apart. The goal is to …
Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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New study aims to unmask hidden causes of childhood joint stiffness
Knowledge-focused Not yet recruitingThis study will look at 35 children with joint problems that are not caused by inflammation, such as stiffness or deformity. Researchers will use exams, lab tests, and imaging to find the true cause, which could be rare genetic conditions like mucopolysaccharidoses or osteogenesi…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:17 UTC