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Hurler-Scheie syndrome

MONDO:0011759

Hurler-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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Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Hereditary disease (176) Eye disorder (102) Bone disorder (51) Inborn errors of metabolism (45) Lysosomal storage disease (35) Syndromic disease (25) Human disease (14)
Trials to join now! 1 Not yet recruiting 2 Not yet finished but already full! 2
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  • First human trial launches for Gene-Based MPS i treatment

    Disease control Recruiting now

    This early-stage study tests whether ISP-001 is safe and tolerable in 11 people with a rare genetic disease called MPS I (Hurler-Scheie or Scheie types). Participants receive the experimental treatment and are monitored for side effects. The goal is to gather safety data for futu…

    Phase: PHASE1 • Sponsor: Immusoft of CA, Inc. • Aim: Disease control

    Last updated Jul 19, 2026 00:00 UTC

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