Mucopolysaccharidosis type 3A
MONDO:0009655A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.
Also known as: MPS III A, MPS3A, MPSIIIA, Sanfilippo A, Sanfilippo syndrome a, Sanfilippo syndrome type A, heparan sulfamidase deficiency, mucopolysaccharidosis type 3A
8 clinical trials for this condition and its sub-types.
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Gene therapy for sanfilippo a: does it last?
Disease control ENROLLING_BY_INVITATIONThis study follows 41 children with Sanfilippo A (MPS IIIA) who previously received UX111 gene therapy in earlier trials. Researchers will monitor safety and how well the therapy controls the disease over time, using tests like the Bayley cognitive scale. No new gene therapy is g…
Phase: PHASE3 • Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Jul 19, 2026 00:00 UTC
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New hope for kids with rare brain disease: drug targets toxic buildup
Disease control OngoingThis study tests a drug called DNL126 in 20 children with Sanfilippo syndrome type A, a rare genetic disorder that causes brain damage. The drug is given through a vein and aims to reduce harmful substances in the brain and body. The trial lasts about 6 months, with options to co…
Phase: PHASE1, PHASE2 • Sponsor: Denali Therapeutics Inc. • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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New study monitors heart risks in rare genetic disease
Knowledge-focused OngoingThis study follows 30 people with mucopolysaccharidoses (MPS) over three years to see how their heart and arteries change. Researchers use neck ultrasounds and blood tests to measure artery thickness, stiffness, and signs of inflammation. The goal is to better understand cardiova…
Sponsor: Children's Hospital of Orange County • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC