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.
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Smartphone videos could unlock secrets of rare brain disease
Knowledge-focused Not yet recruitingThis study tracks how Sanfilippo syndrome type C, a rare genetic disorder that affects the brain, progresses over time. Caregivers of children and young adults aged 1 to 25 will record videos of daily activities and answer questionnaires using a smartphone app every six months fo…
Sponsor: Phoenix Nest • Aim: Knowledge-focused
Last updated Jul 19, 2026 00:00 UTC
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MPS patients help design exercise program to boost mental health
Knowledge-focused Not yet recruitingThis 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 Jun 27, 2026 09:11 UTC
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New study aims to unmask hidden causes of childhood joint stiffness
Knowledge-focused Not yet recruitingThis study will look at 35 children with joint problems that are not caused by inflammation, such as stiffness or deformity. Researchers will use exams, lab tests, and imaging to find the true cause, which could be rare genetic conditions like mucopolysaccharidoses or osteogenesi…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:17 UTC