RecruitingPhase 1NCT05682144
Metabolic
Mucopolysaccharidosis Type I Scheie
Also known as MPS I Scheie, attenuated Hurler-Scheie syndrome, IDUA deficiency attenuated form, alpha-L-iduronidase deficiency
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 typicall
ORPHA:93476 ↗Gene IDUAPrevalence 1-9 per 100,000 (Orphanet, combined MPS I)Onset Childhood, AdolescentAutosomal recessive genetic
1
studies recruiting now
as of 7 Sept 2026
22
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
12 Jan 2023
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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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
Corneal cloudingJoint stiffness and contracturesCardiac valve diseaseCarpal tunnel syndromeObstructive sleep apneaHepatosplenomegalyShort stature
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Mucopolysaccharidosis Type I Scheie. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).