Mucopolysaccharidosis type 3B
MONDO:0009656A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
Also known as: MPS III B, MPS3B, MPSIIIB, N-acetyl-alpha-glucosaminidase deficiency, Sanfilippo B, Sanfilippo syndrome B, Sanfilippo syndrome type B, mucopolysaccharidosis type 3B
8 clinical trials for this condition and its sub-types.
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New york program offers extra screening for 100,000 newborns
Diagnosis ENROLLING_BY_INVITATIONScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jul 30, 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