Browse recruiting and upcoming clinical trials for Sanfilippo syndrome.
Patient-friendly, AI-assisted summaries based on official ClinicalTrials.gov ↗ records. Last updated: Oct 10, 2026
About this list Hide ClinicalTrials.gov is the complete and most up-to-date source. Trials may be missing, and trial information may have changed since our last check. Always verify important information in the official registry.
Sex All Female (includes ALL) Male (includes ALL) All sexes only
Age All ages Pediatric (under 18) Adult (18+)
Clear Who can join AI People aged 4 years and older with genetically confirmed Sanfilippo syndrome (MPS III).
What is being studied AI Tests cannabidiol (Epidiolex) versus placebo for neurobehavioral and functional outcomes.
Study type Treatment (drug) · Phase 2/3
Who can join AI People with MPS IIIA (Sanfilippo A / Mucopolysaccharidosis III).
What is being studied AI Tests a one-time IV gene therapy (UX111) plus immune drugs for MPS IIIA.
Study type Treatment (drug) · Phase 2/3
Countries Australia, Spain, United States
Who can join AI People with Sanfilippo syndrome (MPS III).
What is being studied AI Tests one infusion of rAAV9-CMV-hNAGLUop for safety and biological effect.
Study type Treatment (drug) · Phase 1/2
Who can join AI People with MPS IIIB (Sanfilippo Syndrome Type B).
What is being studied AI Tests intracerebroventricular tralesinidase alfa versus standard care on cognition in young children.
Study type Treatment (drug) · Phase 3
Who can join AI People with MPS IIIB (Mucopolysaccharidosis Type IIIB, Sanfilippo B) who completed 240 weeks of Study 250-202.
What is being studied AI Tests AX 250 given into the brain ventricle every two weeks for safety and neurocognitive effects.
Study type Treatment (drug) · Phase 4
Countries Colombia, Germany, Turkey +2
Who can join AI People with Mucopolysaccharidosis IIIA (MPS IIIA / Sanfilippo A) who previously received UX111 (ABO-102) in a prior clinical trial.
What is being studied AI Long-term safety, tolerability, and clinical outcomes after prior UX111 (ABO-102) gene therapy.
Countries Australia, Spain, United States
Who can join AI People diagnosed with Mucopolysaccharidosis (MPS I, II, III, IV, VI, VII, IX) or Multiple Sulfatase Deficiency Disease.
What is being studied AI Collects clinical, imaging, biochemical and genetic data to describe MPS natural history.
Who can join AI People with rare genetic neurodegenerative disorders (for example MLD, Krabbe disease, ALD, Batten disease, Gaucher disease, Niemann‑Pick disease, and others).
What is being studied AI Regular clinical evaluations, developmental testing, MRI, and collection of blood, CSF, and urine biomarkers.
Who can join AI People with MPS IIIA (Sanfilippo A / mucopolysaccharidosis type III) who received or plan to receive rebisufligene etisparvovec.
What is being studied AI Collects long-term safety and clinical outcome data after rebisufligene etisparvovec administration for 10 years.
Who can join AI Children and young people (1–25 years) with confirmed Sanfilippo syndrome type C (MPS IIIC).
What is being studied AI Collects caregiver-recorded home videos and questionnaires to track functional and behavioral changes over two years.
Who can join AI Newborn infants under 4 weeks old born at a ScreenPlus pilot hospital, for screening for a panel of rare genetic disorders.
What is being studied AI Tests newborn blood samples for a flexible panel of rare genetic disorders and follows positives for confirmation.
Who can join AI People aged 12 months and older with a confirmed diagnosis of Sanfilippo syndrome type C (MPS IIIC).
What is being studied AI Collects retrospective and prospective clinical data, home videos, and questionnaires to document disease progression.
Countries France, United States