Glycoprotein metabolism disease

This study tests whether adding a bone-marrow concentrate injection during routine back surgery helps the spinal disc heal better. About 90 adults with a herniated disc will get either surgery alone or surgery plus the injection. Researchers will use MRI scans and pain questionna…

This study tests a single dose of a gene therapy called AB-1003 in 10 adults with a rare genetic muscle disease (LGMD2I/R9). The goal is to see if it is safe and can help improve muscle function. Participants must be able to walk or run 10 meters in under 30 seconds.

This study follows people with congenital disorders of glycosylation (CDG) — rare genetic conditions that affect how the body builds sugar chains on proteins. Researchers aim to track how the disease progresses over time, including its impact on organs and thinking abilities. By …

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …