Mucopolysaccharidosis type 3

This trial tests an experimental enzyme replacement called GC1130A in children with Sanfilippo syndrome type A, a rare genetic disease that damages the brain. The enzyme is given through a small device placed under the scalp that delivers it directly into the fluid around the bra…

This trial tests an experimental drug called JR-441 in children with mucopolysaccharidosis type IIIA (MPS IIIA), a rare genetic condition that harms the brain and body. Researchers give the drug as a weekly intravenous infusion to see if it is safe and tolerable. They also measur…

This 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…

This 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…

ScreenPlus 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…

This 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…

This 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…