Mucopolysaccharidosis type 1

This study checks the long-term safety of RGX-111, a gene therapy for people with MPS I (a rare genetic disorder). It follows 21 participants who already received the therapy in an earlier trial. Researchers will monitor side effects and measure changes in thinking and behavior o…

This study tests a gene therapy called RGX-111 for people with MPS I, a rare genetic disorder that damages the brain and body. The therapy delivers a working copy of the missing IDUA gene directly into the fluid around the brain. The trial aims to check if the treatment is safe a…

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 tests whether adalimumab, a drug used for arthritis, can reduce pain and improve joint movement in people with MPS I, II, or VI. It includes children and adults aged 5 and older who have significant pain and limited joint motion. Participants receive either adalimumab …

This study watches how the enzyme drug laronidase moves through the bodies of 13 children with MPS IH (a rare genetic disease) before and after they get a stem cell transplant. The goal is to learn what affects drug levels, not to test a new treatment. Children aged 0-3 who are a…