Mucopolysaccharidosis type 3C
MONDO:0009657A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
Also known as: HGSNAT deficiency, MPS III C, MPS3C, MPSIIIC, Sanfilippo C, Sanfilippo syndrome type C, heparan-alpha-glucosaminide N-acetyltransferase deficiency, mucopolysaccharidosis type 3C
5 clinical trials for this condition and its sub-types, 2 tagged with Mucopolysaccharidosis type 3C itself.
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MPS patients help design exercise program to boost mental health
Knowledge-focused Recruiting nowThis study aims to create a physical activity and sedentary behaviour program tailored for adults with mucopolysaccharidosis (MPS). Researchers will gather input from patients, doctors, nurses, and family members through interviews, focus groups, and workshops. The goal is to des…
Sponsor: Brunel University • Aim: Knowledge-focused
Last updated Aug 21, 2026 00:00 UTC
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New study tracks rare brain disease in children to pave way for future treatments
Knowledge-focused Recruiting nowThis study follows 30 children and young adults with Sanfilippo syndrome type C, a rare genetic disorder that causes severe brain damage. Researchers will measure changes in development and thinking skills over time using standard tests. The goal is to better understand how the d…
Sponsor: Phoenix Nest • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC