Mucopolysaccharidosis

This study looks at the long-term safety and effects of an experimental drug called DNL310 for people with Hunter syndrome (MPS II), a rare genetic disorder. About 99 participants who completed earlier studies will receive the drug for up to 5 years. Researchers will monitor side…

This Phase 3 study tests a new drug called JR-141 against the current standard treatment (idursulfase) in 86 people with Hunter syndrome (MPS II). The goal is to see if JR-141 can better reduce harmful substances in the brain and improve thinking skills. Participants can switch t…

This study tests a gene therapy called RGX-121 in children aged 4 months to 5 years with Hunter syndrome, a rare genetic disease that affects the brain and body. The therapy delivers a working copy of the missing gene to the central nervous system. Researchers will measure improv…

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 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 new gene therapy for boys with Hunter syndrome, a genetic disorder that damages the brain and body. The therapy uses the child's own blood stem cells, modified to produce the missing enzyme, and aims to stop disease progression. Five boys aged 3 to 22 months wi…

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 early study tests a daily injection of vosoritide (Voxzogo) in 6 children aged 5 to 10 with MPS IVA or VI, rare conditions that cause growth problems. The main goal is to see if the drug is safe and tolerable over 96 weeks. Researchers will also look at changes in height and…

This study is an extension of a previous trial testing JR-141, a drug given weekly by IV, for people with Hunter syndrome (a rare genetic disorder). It aims to see if the drug remains safe and effective over a longer period. About 80 participants who completed the earlier study w…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This Phase 3 trial tests a new gene therapy called OTL-203 against the standard stem cell transplant for children with Hurler syndrome, a rare genetic disorder. The therapy uses the child's own blood stem cells, modified to produce the missing enzyme, aiming to improve survival a…

This study aimed to see if giving a combination of immune-suppressing drugs (rituximab, methotrexate, and IVIG) alongside the standard enzyme therapy ELAPRASE could prevent patients with Hunter syndrome from developing harmful antibodies. It was designed for boys who had never re…

This study tests a one-time gene therapy for children with Hurler syndrome, a severe genetic disorder. Doctors take the child's own blood stem cells, add a working copy of the missing gene, and put them back. The goal is to help the body produce the enzyme it lacks, potentially s…

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…

This study is a follow-up for people with Hunter syndrome and cognitive problems who already took part in earlier studies. It aims to check the long-term safety of the drug idursulfase-IT given with Elaprase. About 6 children and adults will continue their same treatment to monit…

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…

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 tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

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 aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study looks at whether people with Fabry, Gaucher, or Hunter disease are more likely to continue their IV treatment when it's given at home versus at a hospital. Researchers will review existing data from 222 patients in Mexico. No new treatments are given; the goal is to un…

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…

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…

This study was designed to see if a new monitoring algorithm could detect early signs of ovarian damage in women and girls who had cancer treatment. Researchers planned to compare a group using the new algorithm with a group that received standard care. However, the study was wit…