Hurler-Scheie syndrome
MONDO:0011759Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
Also known as: Hurler-Scheie syndrome, MPS I H-S, MPS1H/S, MPSIH/S, mucopolysaccharidosis type 1H/S, mucopolysaccharidosis type IH/S, mucopolysaccharidosis, mps-I-s, Hurler–Scheie syndrome
5 clinical trials for this condition and its sub-types.
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Gene therapy trial for rare childhood disease halted Mid-Study
Disease control TerminatedThis study tests a gene therapy called RGX-111 for people with MPS I, a rare genetic disorder that damages the brain and body. The therapy delivers a working copy of the missing IDUA gene directly into the fluid around the brain. The trial aims to check if the treatment is safe a…
Phase: PHASE1, PHASE2 • Sponsor: REGENXBIO Inc. • Aim: Disease control
Last updated Jun 27, 2026 11:01 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