late-onset Pompe disease

AT-GAA, an investigational therapy by Amicus Therapeutics for late-onset Pompe disease, will be available to select patients in the U.K. through an early access program before its potential regulatory approval. Eligible patients are adults who have received the enzyme replacement therapy (ERT) alglucosidase alfa — the…

Amicus Therapeutics anticipates completing a rolling application by mid-year to seek approval of its investigational therapy AT-GAA for late-onset Pompe disease in the U.S. The announcement follows a pre-filing meeting with the U.S. Food and Drug Administration (FDA). The rolling biologics license application (BLA), initiated in…

Fat replacement of back, abdominal, and trunk muscles in late-onset Pompe disease (LOPD) correlates with diaphragm weakness and worsening respiratory function, a long-term clinical study has determined. “These results suggest that identification of fat replacement in these areas … should…

A Phase 1/2 trial is recruiting adults in the U.S. who have late-onset Pompe disease to test a gene therapy, AT845, being developed by Audentes Therapeutics, according to an update from the Muscular Dystrophy Association. The company-sponsored FORTIS trial (NCT04174105) will be evaluating the safety…

Patients with late-onset Pompe disease (LOPD) usually develop breathing problems as the disease progresses. If you have LOPD, you may eventually need ventilation to aid your breathing. Here is more information about how Pompe affects breathing and about ventilators that may help to ease the disease’s symptoms. How…

Spark Therapeutics has dosed the first patient in the Phase 1/2 RESOLUTE clinical trial of SPK-3006, an experimental gene therapy for people with late-onset Pompe disease (LOPD). “Dosing the first participant in the Phase 1/2 RESOLUTE trial of investigational SPK-3006 for late-onset Pompe disease is an important milestone and…

Late-onset Pompe disease (LOPD) can affect a number of different organs and systems in the body. If you have the disorder, you will need to see a multidisciplinary treatment team to ensure you receive the best possible care. Read on for more information about some of the complications that…

Deferoxamine, a medication normally used to remove excess iron and aluminum from the body, can counteract the effects of a disease-causing genetic variant often found in people with late-onset Pompe disease (LOPD). These findings highlight the potential of drug repurposing for the development of new therapies for LOPD,…

Patient-reported outcomes — particularly those related to general physical and arm function — effectively reflect disease severity in people with late-onset Pompe disease as assessed with validated clinical measures, a study suggests. Selected outcomes, part of the Patient-Reported Outcomes Measurement Information System (PROMIS), were found to represent the…

Rare and chronic conditions such as Pompe disease can take an emotional toll on patients and caregivers on top of everything else. Between symptoms such as muscle weakness and fatigue, and feelings of isolation, coping can be a challenge. It may seem as if hardly anyone understands what…