Pompe News Briefs

pompe disease

Newly Identified Airway Pathology Correlates With Pompe Disease Impairments

Glycogen pileup in the distal airway cells of Pompe disease (PD) may contribute to respiratory impairments in patients with the disease, a new study published in the FASEB Journal found. PD is a disorder in the glycogen hydrolyzation within the lysosomes due to alpha-glucosidase (GAA) deficiency. The disease includes skeletal, nervous, cardiac, and respiratory manifestations. Respiratory insufficiency…

neurodegenerative

Absence of GAA Leads to Neurodegeneration in Pompe Disease Model

The absence of acid α-glucosidase (GAA) in the hypoglossal nerve may lead to histopathological appearance and neurodegeneration according to a study in a mouse model of Pompe disease. It is thought that the dysfunction of the hypoglossal nerve, the nerve that controls tongue movement, leads to lingual impairment and sleep-disordered breathing, 2 common symptoms of…

gene therapy

Engineered Enzyme Variants May Have Better Efficacy in Pompe Disease Therapy

New enzyme variants developed by Codexis may have better efficacy than enzymes currently used for enzyme replacement therapy in patients with Pompe disease and other diseases, according to preclinical data presented at the American Society of Gene and Cell Therapy (ASGCT) 25th Annual Meeting.  The engineered acid alpha-glucosidase (GAA) enzyme variants for Pompe disease retained…

doctors laboratory

Could Mass Spectrometry or Fluorimetry Be Used in Diagnosing Pompe Disease?

Quantitative assessment of enzymatic reaction byproducts using mass spectrometry or fluorimetry may become a novel diagnostic tool for Pompe disease (PD) and other lysosomal storage diseases (LSDs), according to a study recently published in The FASEB Journal. Substrates of such enzymes are usually made up of a particle recognized by the enzyme that is attached…

intravenous

FDA Expected to Act Soon on AT-GAA for Pompe Disease

Amicus Therapeutics announced Prescription Drug User Fee Act action dates of May 29, 2022, for the New Drug Application and July 29, 2022, for the Biologic License Application regarding the 2-component cipaglucosidase alfa/miglustat (AT-GAA) therapy for Pompe disease (PD). The company noted that the US Food and Drug Administration and European Union regulatory reviews of…

muscle tissue

Muscle Pathology Accurately Predicts Pompe Disease, Study Says

Muscle pathology is an accurate method to diagnose Pompe disease (PD) that resulted in no false negatives in a study recently published in the Journal of Neurology, Neurosurgery & Psychiatry.  Previous publications have reported that PD is less prevalent in Japan than in neighboring countries, raising the possibility of overlooked patients. Therefore, a research institution…

Sick newborn baby

Novel GAA Variant Found in Infant With Pompe Disease

Researchers reported the case of an infant with Pompe disease who died young despite being on enzyme replacement therapy, as published in Molecular Genetics & Genomic Medicine.  The case study details a full-term patient born via eutocic delivery. He was hospitalized because he required advanced cardiopulmonary resuscitation and face mask lung inflation with 21% oxygen…

Gene therapy concept

Lentiviral Gene Therapy May Improve Efficacy of ERT in Pompe Disease

Lentiviral gene therapy is able to induce a robust and long-term immune tolerance to the lysosomal enzyme acid alpha-glucosidase (GAA) either expressed as a transgene or supplied via enzyme replacement therapy (ERT), a study in a mouse model of Pompe disease showed. “This not only allows additional treatment with ERT in patients in whom gene…

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