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
61 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 24 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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Milder transplant method aims to help young patients with rare blood diseases
Disease control Recruiting nowThis study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…
Phase 2 • Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 08:04 UTC
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MPS patients help design exercise program to boost mental health
Knowledge-focused Recruiting nowThis study aims to create a physical activity and sedentary behaviour program tailored for adults with mucopolysaccharidosis (MPS). Researchers will gather input from patients, doctors, nurses, and family members through interviews, focus groups, and workshops. The goal is to des…
Sponsor: Brunel University • Aim: Knowledge-focused
Last updated Aug 21, 2026 00:00 UTC
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New registry aims to unlock secrets of rare childhood diseases
Knowledge-focused Recruiting nowThis study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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New study aims to uncover heart risks in rare MPS diseases
Knowledge-focused Recruiting nowThis study looks at how heart and blood vessel problems develop in people with MPS I and IVA. Over 4 years, 240 participants will get yearly heart ultrasounds, blood tests, and urine tests. The goal is to find reliable markers that can track heart health and guide future treatmen…
Sponsor: Children's Hospital of Orange County • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:14 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC