Hurler syndrome

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 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 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 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 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 looked at whether having more frequent contact with a clinician (at least once a week) improves satisfaction for people with long-lasting musculoskeletal conditions. Participants were split into two groups: one with standard contact and one with extra check-ins via tex…

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 tests whether a Norwegian clinic (NSAC) helps people with common mental health issues or muscle pain return to work sooner. 2500 adults are split into three groups: one gets treatment quickly, one waits 10-14 weeks, and one gets a basic check-up. Researchers will track…

This study looks back at the medical records of about 4 million people who had physical or occupational therapy for muscle and joint problems. Researchers want to see if different ways of giving therapy lead to different results. No new treatments are tested—the goal is to learn …

This study aimed to see if a mobile monitoring tool could accurately identify surgical site infections (SSIs) in orthopedic surgery patients, compared to the usual manual review. The study was withdrawn before enrolling any participants, so no results are available. It was design…

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 offers free vision screenings to underserved adults over 40 living in affordable housing in Harlem and Washington Heights. The goal is to find eye problems like glaucoma, cataracts, and diabetic retinopathy early and connect people with follow-up care. About 749 partic…

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…