Muscle cells in people with Pompe disease show dysregulation affecting a range of different biological processes, including molecular recycling systems, muscle fiber structure, immune activity and metabolism, according to a study. Specific patterns of molecular dysregulation were generally more pronounced in muscle from people with infantile-onset Pompe disease…
Research
In late-onset Pompe disease (LOPD), damage to muscles starts before visible changes appear, gradually progressing from stress to inflammation, scarring (fibrosis), and attempts at remodeling and repair, according to a small European study. “These findings indicate that [disease-associated] remodelling in Pompe muscle begins before [muscle damage becomes] morphologically evident…
More than 8 in 10 people with late-onset Pompe disease (LOPD) reported chronic nociceptive musculoskeletal pain, or pain affecting the muscles, bones, and surrounding tissues caused by damage or strain, a new study found. However, pain was not associated with muscle weakness, walking ability, or structural changes in the…
A lung function test called intrabreath oscillometry may detect abnormalities related to late-onset Pompe disease (LOPD) that standard breathing tests would miss, a new study shows. Findings suggest that intrabreath oscillometry may be more reliable than a standard test called spirometry at detecting weakened chest muscles in people with…
Changes in the brain and spinal cord may begin early in children with classic infantile-onset Pompe disease, years before they become apparent on brain scans, blood tests, or cognitive assessments, according to a review of data from published studies. Researchers found widespread buildup of glycogen — the complex sugar…
The accumulation and abnormal location of proteins involved in repairing cell membranes and muscle may represent biological markers of Pompe disease progression, according to a study. Specifically, changes in the molecular repair pathways may help prevent the activation of satellite cells (SCs). SCs typically drive muscle growth and regeneration.
Two newly identified mutations in the GAA gene, along with a previously known variant of unclear significance, were found to reduce the activity of the enzyme whose deficiency causes Pompe disease, a study has shown. The three variants appeared to produce unstable forms of the enzyme that were prone…
A middle-aged woman with late-onset Pompe disease (LOPD) developed damage to her sensory nerve cells after receiving the gene therapy candidate AT845 — in development as a Pompe disease treatment — in a clinical trial, according to a new case report. While the woman’s symptoms, particularly reduced sensations…
The first patient has been dosed in a Phase 1/2 clinical trial testing AB-1009, Askbio’s investigational gene therapy for late-onset Pompe disease (LOPD), the company said. The trial, PROGRESS-GT LOPD (NCT07282847), primarily aims to assess the therapy’s safety in up to 12 adults with LOPD, aged 18 and…
Heart problems in late-onset Pompe disease appear milder and less specific than in the disease’s infantile-onset form, a review study found. While heart scans can detect these changes, further research is needed to fully understand them, according to the researchers, who reviewed data from 11 previous studies. “Knowledge of…
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