gene therapy

A 1-year-old boy with infantile-onset Pompe disease (IOPD) showed improved muscle strength and signs of less heart inflammation four months after receiving gene therapy, according to a case report. The findings in this case were confirmed with cardiac MRI, a noninvasive test that uses radio waves and magnets to…

A gene therapy designed to travel into muscles resulted in widespread production of the enzyme that’s missing or faulty in Pompe disease, according to a study that also describes a new rat model of the infantile-onset form of the disease. Researchers also observed that rats given a single…

Throughout 2023, Pompe Disease News brought you coverage of the latest developments in research into Pompe disease and clinical trials of potential new treatments. Here is a list of the 10 most-read stories we published across that year. We hope to continue being a source of information…

A new gene therapy for Pompe disease showed promise in a mouse model, researchers say, fully clearing in muscles the buildup of glycogen that characterizes the genetic disorder and also reducing it nearly completely in the brain. Glycogen is the stored form of glucose, or sugar — the body’s…

Certain protein modifications may enhance the ability of a therapeutically-delivered acid alpha-glucosidase (GAA) enzyme to be secreted and taken up by neighboring cells in models of Pompe disease, a study suggested. Such approaches could offer ways to improve the effectiveness of gene therapies for Pompe, although more work is…

The investigational gene therapy ACT-101 overall was well-tolerated among three people with late-onset Pompe disease (LOPD) who were treated in a Phase 1/2 clinical trial. Moreover, the trial results also showed that treatment markedly increased levels of the GAA enzyme — deficient in Pompe disease — in the patients’ muscle…

Acceptable safety is being seen to date in four adults with late-onset Pompe disease (LOPD) given the one-time gene therapy  AT845 in the FORTIS Phase 1/2 trial, its developer, Astellas Gene Therapies, announced. Interim study data in these four enrolled patients, as of the Dec. 3 cutoff date, shows…

An investigational gene therapy called AT845 could effectively increase the activity of an enzyme that’s deficient in mouse and nonhuman primate models of Pompe disease, according to a study. The research also highlights potential complications that can occur when gene therapies designed for use in humans are tested in…

Gene therapy given with chaperones — specific molecules known to stabilize the structure of proteins — was found to enhance the availability of acid alpha-glucosidase, known as GAA, the missing or defective enzyme in Pompe disease (PD), in a mouse model. The treatment subsequently eased disease symptoms, with the…

A new enzyme replacement therapy (ERT) targeting specific cell types boosts the delivery of acid alpha-glucosidase (GAA) — the enzyme missing or defective in Pompe disease patients — to muscle and heart cells, a study shows. Compared to standard ERT, the targeted approach by Regeneron Pharmaceuticals normalized the…