Glycogen storage disease II

This early-phase study tested a new drug called ABX1100 in 46 people, including healthy volunteers and patients with late-onset Pompe disease. The main goal was to check safety and how the drug moves through the body. Researchers gave single or multiple doses to find the right am…

This early-phase study tested a new gene therapy called ACTUS-101 in 7 adults with late-onset Pompe disease. The main goal was to check safety and side effects. Participants received a single intravenous dose, and researchers monitored their health over time.

This study tested the long-term safety of a combination therapy (ATB200 and AT2221) in 119 adults with late-onset Pompe disease who had completed a prior study. Participants received the drugs for an extended period, and researchers tracked side effects, walking distance, and lun…

This study tested whether a new combination of two drugs (ATB200 and AT2221) is safe for adults with Pompe disease, a rare genetic disorder that causes muscle weakness. 29 participants received the drugs through an IV and by mouth. The main goal was to check for side effects and …

This phase 3 trial tested a new treatment for adults with late-onset Pompe disease, a rare genetic disorder that weakens muscles and breathing. Participants received either the experimental combo (cipaglucosidase alfa plus miglustat) or the current standard therapy (alglucosidase…

This study tested whether high-dose inspiratory muscle training (IMT) using a handheld device is safe and feasible for people with late-onset Pompe disease. 34 adults with stable Pompe disease did remote breathing exercises. Researchers measured changes in respiratory strength an…

This study investigates whether people with late-onset Pompe disease have a higher risk of severe blood vessel problems in the brain and aorta. Researchers will collect medical and genetic data from adults with Pompe disease and from those who have had a brain aneurysm or bleedin…

This study collected information from over 15,000 people hospitalized with cardiomyopathy, a heart muscle disease. Researchers looked at how much these hospital stays cost and what the money was spent on. The goal was to understand the real-world financial impact and help manage …

This small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non…