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…
gene therapy
Researchers in the U.S. used a gene-editing tool in the lab to correct mutations known to cause infantile-onset Pompe disease, and this enabled patient-derived cells to produce a working version of the acid alpha-glucosidase (GAA) enzyme they lacked. The approach “may offer an efficacious, long-term therapy,” the researchers wrote,…
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 stem-cell based gene therapy that’s modified for better entry into muscle cells was seen to normalize protein levels in the skeletal muscle tissue of a mouse model of Pompe disease, according to a new report. The Pompe mice exhibited altered levels of hundreds of proteins — including ones…
Disease severity varied widely among adults with late-onset Pompe disease who underwent screening to assess their eligibility to participate in a gene therapy clinical trial, a study reports. Elevated levels of antibodies against the viral delivery vector were one of the exclusion criteria, suggesting that future studies may use…
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…
Regulatory authorities in the U.S. and the U.K. are expected to decide in the third quarter of this year whether or not to approve AT-GAA as a treatment for late-onset Pompe disease, according to its developer, Amicus Therapeutics. The U.S. Food and Drug Administration (FDA) had previously…
FORTIS, a Phase 1/2 clinical trial of an experimental gene therapy called AT845, is due to restart in adults with late-onset Pompe disease (LOPD), thanks to a decision by the U.S. Food and Drug Administration (FDA). The trial was put on hold mid-2022 after one of its…
Researchers created and characterized an infantile-onset Pompe disease (IOPD) mouse model that carried a genetic defect commonly found among people with Southern Han Chinese ancestry, a study reported. The model recapitulated most of the signs and symptoms of IOPD and, according to researchers, is ideal to evaluate potential IOPD…
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