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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New stem cell approach aims to tame rare genetic diseases
Disease control OngoingThis study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…
Phase 2 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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Gene therapy could replace risky transplants for kids with hurler syndrome
Disease control OngoingThis Phase 3 trial tests a new gene therapy called OTL-203 against the standard stem cell transplant for children with Hurler syndrome, a rare genetic disorder. The therapy uses the child's own blood stem cells, modified to produce the missing enzyme, aiming to improve survival a…
Phase 3 • Sponsor: Orchard Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:06 UTC
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Hunter syndrome study pulled before it even started
Disease control CancelledThis study aimed to see if giving a combination of immune-suppressing drugs (rituximab, methotrexate, and IVIG) alongside the standard enzyme therapy ELAPRASE could prevent patients with Hunter syndrome from developing harmful antibodies. It was designed for boys who had never re…
Phase 4 • Sponsor: Takeda • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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New study monitors heart risks in rare genetic disease
Knowledge-focused OngoingThis study follows 30 people with mucopolysaccharidoses (MPS) over three years to see how their heart and arteries change. Researchers use neck ultrasounds and blood tests to measure artery thickness, stiffness, and signs of inflammation. The goal is to better understand cardiova…
Sponsor: Children's Hospital of Orange County • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC