RecruitingNCT03604835
Metabolic
Mucopolysaccharidosis Type VII
Also known as MPS VII, Sly syndrome, GUSB deficiency, beta-glucuronidase deficiency
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is an extremely rare lysosomal storage disorder caused by deficiency of beta-glucuronidase (GUSB), resulting in accumulation of dermatan sulfate, heparan sulfate, and chondroitin sulfat
ORPHA:584 ↗Gene GUSBPrevalence 1-9 per 1,000,000 (Orphanet)Onset Neonatal, Infantile, ChildhoodAutosomal recessive genetic
4
studies recruiting now
as of 7 Sept 2026
18
studies registered in total
as of 7 Sept 2026
8
countries with a recruiting site
as of 7 Sept 2026
14 Sept 2023
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT05619900
Registry of Patients Diagnosed With Lysosomal Storage Diseases
RecruitingPhase 1NCT04532047
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
RecruitingNCT06036693
MPS (RaDiCo Cohort) (RaDiCo-MPS)
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Mucopolysaccharidosis Type VII
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is an extremely rare lysosomal storage disorder caused by deficiency of beta-glucuronidase (GUSB), resulting in accumulation of dermatan sulfate, heparan sulfate, and chondroitin sulfate. Clinical features range from severe hydrops fetalis and neonatal death to mild forms surviving into adulthood. Vestronidase alfa (Mepsevii) is approved as enzyme replacement therapy for non-CNS manifestations.
Common clinical features
Hydrops fetalisCoarse facial featuresHepatosplenomegalySkeletal dysplasiaIntellectual disabilityRecurrent respiratory infectionsCorneal clouding
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Vestronidase Alfa (Mepsevii)
Before you apply
Things trial teams commonly ask about for Mucopolysaccharidosis Type VII. Not eligibility rules; those are set by each study.
- Vestronidase alfa (Mepsevii) is approved — trials focus on CNS outcomes, intrathecal delivery, or next-generation approaches
- Beta-glucuronidase enzyme activity in leukocytes is the primary diagnostic biomarker required for enrollment
- Urinary glycosaminoglycan (GAG) quantification is a key pharmacodynamic endpoint in ERT trials
- MPS VII is extremely rare — contact MPS Society for disease-specific trial matching and registry enrollment
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).