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
Clinical Trial Eligibility Tips
What to know before applying to Sanfilippo Syndrome trials.
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
Patient Resources
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