RecruitingPhase 1NCT02254863
Metabolic
Sanfilippo Syndrome
Also known as MPS III, mucopolysaccharidosis type III, heparan sulfate storage disease, Types A B C D
Sanfilippo syndrome (MPS III) is a group of four biochemically distinct lysosomal storage disorders (Types A-D) that all result in accumulation of heparan sulfate primarily in the brain, causing severe progressive neurodegeneration with rel
ORPHA:581 ↗Gene SGSH (A)Gene NAGLU (B)Gene HGSNAT (C)Gene GNS (D)Prevalence 1-9 per 100,000 (Orphanet)Onset Infantile, ChildhoodAutosomal recessive genetic
9
studies recruiting now
as of 7 Sept 2026
60
studies registered in total
as of 7 Sept 2026
4
countries with a recruiting site
as of 7 Sept 2026
27 Mar 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 2 / Phase 3NCT02716246
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
RecruitingPhase 2 / Phase 3NCT06333041
Study of Cannabidiol in Sanfilippo Syndrome
RecruitingNCT05825131
Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
RecruitingNCT06036693
MPS (RaDiCo Cohort) (RaDiCo-MPS)
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 9 recruiting studiesWhere recruiting studies are running
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 Sanfilippo Syndrome
Sanfilippo syndrome (MPS III) is a group of four biochemically distinct lysosomal storage disorders (Types A-D) that all result in accumulation of heparan sulfate primarily in the brain, causing severe progressive neurodegeneration with relatively mild somatic involvement. Children typically develop normally for the first 1-3 years, then experience behavioral problems, hyperactivity, sleep disturbance, and relentless intellectual decline. No approved therapies exist, making clinical trials critical for this population.
Common clinical features
Hyperactivity and aggressionProgressive intellectual declineSleep disturbanceLanguage regressionSeizuresSwallowing difficultiesCoarse features (mild)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2/3Cannabidiol (Epidiolex)
Phase 2N-Sulfoglucosamine Sulfohydrolase Recombinant
Phase 1/2Sobi-003
Before you apply
Things trial teams commonly ask about for Sanfilippo Syndrome. Not eligibility rules; those are set by each study.
- Specify MPS III type (A, B, C, or D) — enzyme activity and gene mutations differ by type and trials are subtype-specific
- CSF heparan sulfate level is the key CNS biomarker used in interventional trials for efficacy
- Developmental staging and cognitive assessment scores are primary eligibility and outcome measures
- Type A (SGSH) has the most active trial pipeline including gene therapy and enzyme replacement — enroll early before significant neurological decline
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).