Pompe News Briefs

New Engineered GAA Variants Could Overcome Shortcomings of Current ERTs

Researchers at Codexis Inc. engineered new α-glucosidase (GAA) enzyme variants that are substantially more stable than wild-type GAA. One or more of these variants could be better taken up by cells when used as enzyme replacement therapy (ERT) for Pompe disease, according to the researchers. Their high activity may also persist longer if used as…

New LOPD Conceptual Model Identifies Key Symptoms and Functional Impacts

Researchers have developed qualitative interviews that identified the most frequent and relevant symptoms in patients with late-onset Pompe disease (LOPD). The new conceptual model also evaluated the functional impact of LOPD on patients’ daily living. Patients described these as the most common and disquieting symptoms: fatigue (92%), site-specific muscle pain (69%), muscle weakness in the…

Reverse Vaccination: A New Process to Prevent Immune System From Attacking Medications

A research team discovered the use of “reverse vaccination,” a process that pre-exposes the body to medications to build immune tolerance to those therapies, according to a news release from the University of Buffalo.  One of the biggest obstacles in developing therapies that are effective against diseases such as Pompe disease and hemophilia A is…

Scientist

Elevated Oxidative Stress Hampers ERT Efficacy in Pompe Disease

Findings from an investigative study revealed that elevated oxidative stress levels in both mice and humans with Pompe disease impaired the ability of enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA) to correct the causative enzyme deficiency. Correction of oxidative stress using antioxidants in addition to ERT in both mouse and human models…

Genetic research

New Pathogenic Pompe Disease Variants Identified

A new study published in Gene identified 55 different molecular pathogenic variants of Pompe disease in the Spanish population. Twelve of these had not previously been described, and they affected the function or expression of the acid α-glucosidase (GAA) protein, which is deficient in Pompe disease. “In this study, we describe the largest genetic characterization…

pompe disease etiology

New Next-Generation Screening Panel Could Help Identify and Manage Pompe Disease

A high-throughput newborn next-generation screening panel targeted toward lysosomal storage disorders is fast, accurate, and cost-effective, according to an article from Italian researchers published in the International Journal of Molecular Sciences. Introducing this technology into routine newborn screening programs along with primary biochemical assays could facilitate the identification and management of selected lysosomal storage disorders…

Pompe disease pathohysiology

New Enzyme Replacement Therapy on Track for Pompe Disease

Cipaglucosidase alfa and AT-GAA for the treatment of Pompe disease have had a Biologics License Application (BLA) and New Drug Application (NDA) accepted for review by the US Food and Drug Administration (FDA), respectively. “The FDA’s acceptance of these filings is an immensely important step forward for people living with Pompe disease and their families…

pompe disease

Novel Chaperones Could Improve Efficacy of ERT for Pompe Disease

L-, D-, and acetyl-D-carnitine are novel chaperones for the recombinant acid α-glucosidase (rhGAA) enzyme, a new study published in the Journal of Enzyme Inhibition and Medicinal Chemistry found. This could mean that the efficacy of enzyme replacement therapy (ERT) with rhGAA to treat Pompe disease could be enhanced using these newly identified chaperones. ERT with…

pompe disease diagnosis

Newborn Screening for Pompe Disease Favored by Healthcare Providers

Nearly 95% of healthcare providers are in favor of the inclusion of Pompe disease in newborn screening, according to a new study published in Molecular Genetics and Metabolism. However, many clinicians reported encountering barriers to effectively treating patients with newborn screenings indicative of Pompe disease. The most commonly reported barriers were lag time between newborn…

CPAP Training Improves Speech in Infantile-Onset Pompe Disease Patients

Training using continuous positive airway pressure (CPAP) improved speech in a small cohort of children with infantile-onset Pompe disease (IOPD). The study, published in Scientific Reports, showed that a speech training protocol that included increasing pressure and time wearing a CPAP improved the degree of hypernasality and speech intelligibility scores in 3 patients. The authors…

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