Mucopolysaccharidosis type 3D
MONDO:0009658A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.
Also known as: GNS deficiency, MPS III D, MPS3D, MPSIIID, Sanfilippo D, Sanfilippo syndrome D, Sanfilippo syndrome type D, glucosamine N-acetyl-6-sulfatase deficiency
3 clinical trials for this condition and its sub-types.
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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