About Mucopolysaccharidosis Type I Scheie
MPS I Scheie is the attenuated form of mucopolysaccharidosis type I, caused by partial deficiency of alpha-L-iduronidase (IDUA), resulting in accumulation of dermatan and heparan sulfate. Unlike severe Hurler syndrome, intellect is typically preserved, but patients develop severe somatic disease including corneal clouding, joint contractures, cardiac valve disease, and airway obstruction. Laronidase (Aldurazyme), an approved enzyme replacement therapy, addresses somatic manifestations.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Mucopolysaccharidosis Type I Scheie trials.
IDUA enzyme activity and urinary GAG levels (dermatan and heparan sulfate) are required baseline biomarkers
Laronidase (Aldurazyme) ERT is standard — trials may study intrathecal approaches, gene therapy, or substrate reduction
Cardiac valve assessment (echocardiogram) and pulmonary function are required baseline measures
MPS I Scheie versus Hurler-Scheie distinction may affect trial stratification — phenotypic severity scoring should be documented
Patient Resources
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