infantile-onset Pompe disease

heart disease

Study Recommends Pompe Disease Testing in Fetuses With Heart Disease

Infants with intrauterine-onset Pompe disease mostly have early manifestations of heart disease, according to a new study published in the Italian Journal of Pediatrics. Based on this finding, the authors suggest that molecular genetic testing should be conducted as soon as possible to ensure that patients start receiving treatment in a timely manner. Pompe disease…

group of doctors

Study Recommends Personalized ERT Approach for Pompe Disease

High-dose enzyme replacement therapy (ERT) along with continuously adjusted immunomodulation may seem to be an efficient approach for infantile-onset Pompe disease (IOPD), according to a study recently published in Molecular Genetics and Metabolism Reports. “The combination of early onset high dose weekly ERT, off label extended-release albuterol and successful long term immune tolerance based on…

petri dish

Proteomic-Based Assay Discriminates False Positive Pompe Disease Cases

Implementation of a proteomic-based assay has been shown to reduce the rate of false-positive diagnoses and to shorten the turnaround time for the clinical follow-up in patients with severe Pompe disease (PD) and mucopolysaccharidosis type 1 (MPS 1), according to a new study published in Molecular Genetics and Metabolism. Individuals with biochemical or genetic testing…

clinical trial

New Clinical Trial Opens for Patients With Late-Onset Pompe Disease

A new clinical trial assessing the safety and feasibility of high-dose inspiratory muscle training delivered remotely in patients with late-onset Pompe disease has been launched at Duke University in Durham, North Carolina. The study will also determine the effects of high-dose inspiratory muscle training on respiratory and patient-reported outcomes. The trial aims to recruit 29…

european commission

European Commission Approves Avalglucosidase Alfa for Pompe Disease

The European Commission approved avalglucosidase alfa, sold under the brand name Nexviadyme® by Sanofi, as a potential new standard of care for infantile-onset and late-onset Pompe disease. This makes avalglucosidase alfa a new treatment option for patients in Europe who have had Pompe disease for more than 15 years. “The approval of Nexviadyme in Europe…

genomic testing

Genome Editing Restores GAA Function in Patient With IOPD

Researchers managed to restore the function of the acid alpha-glucosidase (GAA) enzyme in fibroblasts derived from a patient with infantile-onset Pompe disease (IOPD) using genome editing techniques. They reported their findings at the American Society of Gene and Cell Therapy (ASGCT) 25th Annual Meeting. “The results presented herein underscore the potential of base and prime…

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…

response curves

Study Finds Abnormal Uroflow Curves in Pompe Disease

Lower urinary tract symptoms are prevalent in children with infantile-onset Pompe disease, even if they received enzyme replacement therapy and especially if they have overactive bladder symptoms, a new study published in Neurourology Urodynamics found. Previous research has shown that Pompe disease can affect the smooth muscles of the bladder but to date, only 1…

blood research

New Pathogenic Mechanisms Identified in Pompe Disease Preclinical Models

In vitro models focusing on idiopathic inflammatory muscle disorders such as Pompe disease (PD) and infantile-onset Pompe disease (IOPD) are helping researchers uncover disease mechanisms and design new therapeutic strategies, according to a new review published in Cells. The review also explores the recent progress that has been made in terms of simulating multicellular interactions…

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