Natural history study for Sanfilippo type C disease
Part of Genetic & congenital, Hormones & metabolism, Skin clinical trials.
This study follows people with Sanfilippo syndrome type C to better understand how the disease changes over time. It does not appear to test a new medicine; instead, it collects health and development information that can help future treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- Confirmed Sanfilippo type C based on specific enzyme testing and genetic (DNA) results for the HGSNAT gene
- Evidence of extra sugar-like material in urine (called GAG/HS) from Sanfilippo type C
- A parent or legal guardian can sign consent (and the child agrees if needed)
- A parent or legal guardian can bring the child to every study visit
- Child can eat or drink by mouth and can walk with or without help
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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