Pompe News Briefs

SMA diagnosis

Very Early ERT Linked With Better Outcomes in Infantile-Onset Pompe Disease

Very early enzyme replacement therapy (ERT) is associated with better outcomes in patients with Infantile-onset Pompe disease (PD), according to a new study. This finding was based on a rapid diagnostic and treatment strategy adopted at Taipei Veterans General Hospital in Taiwan. The study results were published in the Journal of Medical Genetics. The researchers…

glucose molecule

Increased Cytoplasmic Glycogen Synthesis Observed in Pompe Disease Patients

Elevated levels of enzymes related to glucose uptake and cytoplasmic glucose metabolism were observed in Pompe disease patient biopsies and in a mouse model of the disease, according to a study published in the Journal of Inherited Metabolic Disease. In the study, levels of glycogenin (GYG1), glucose transporter 4 (GLUT4), glycogen-branching enzyme (GBE1), and UDP-glucose…

pompe disease guidelines

New Therapeutic Options Show Promise for Pompe Disease Management

Pompe disease (PD) therapeutic options reduce disease burden, however, customized care remains challenging despite these notable treatments, according to a recent review paper. The review provided an update regarding treatment options for PD to help metabolic and neuromuscular specialists in clinical practice. In doing so, it highlighted recent advancements in enzyme replacement therapy, gene therapy, and…

FDA sign

Pompe Disease Drug Candidate Receives Designation From FDA for Pediatric Use

A drug candidate for Pompe disease (PD) recently received the Rare Pediatric Drug (RPD) designation from the US Food and Drug Administration (FDA), according to a recent press release. ABX1100 is a centyrin-small interfering RNAs (siRNAs) conjugate under experimental research as a novel treatment option for patients with PD. Gaining the RPD is an important…

Ultrasonography

Ultrasonography Could Assist in the Differential Diagnosis of Pompe Disease

Ultrasound imaging of the abdominal muscles may help in the differential diagnosis of late-onset Pompe disease (LOPD) from myotonic muscular dystrophy type 1 (DM1), according to a study. Patients with LOPD had significantly reduced abdominal muscle thickness compared to patients with DM1 (P =.028). Two-thirds of the abdominal muscles in the patients with LOPD were observed to have…

questionnaire

Study Assessing Elements of Pain in Patients With Pompe Disease Completed

A clinical trial assessing the prevalence, severity, and quality of musculoskeletal nociceptive pain in adults with neuromuscular disorders including Pompe disease has been completed. The explorative, cross-sectional, case-control pilot study that ran at the Friedrich-Baur-Institute in Munich, Germany under the supervision of Stephan Wenninger, MD, PhD, started on April 15, 2021, and ran through August…

orphan drug designation

New Drug Candidate for Pompe Disease Receives FDA Orphan Drug Designation

The investigational Pompe disease treatment MZE001 has been granted Orphan Drug Designation by the US Food and Drug Administration (FDA).  “We are pleased to have received this designation from the FDA for MZE001, which underscores the need for new, innovative treatments for Pompe disease,” said Jason Coloma, PhD, chief executive officer of Maze Therapeutics, the…

Mask for anesthesia

A New Consensus Statement on Anesthesia in Patients With Neuromuscular Disorders

A new consensus that summarizes important considerations when administering anesthesia in patients with any kind of neuromuscular disorder, including metabolic and mitochondrial myopathies such as Pompe disease, was recently published in the European Journal of Neurology. Patients with neuromuscular disorders have a higher risk of perioperative complications than the general population. A notable percentage of patients…

dna sequencing

NGS Detects Structural Variants in Diseases Including LAL-D and Pompe Disease

Next-generation sequencing (NGS) may be a useful tool for the detection and diagnosis of lysosomal storage diseases (LSDs) including lysosomal acid lipase deficiency (LAL-D) and Pompe disease. According to a review article published in Biomedicines, as NGS technologies advance and become more available, they offer faster, cheaper, and higher-resolution testing options to identify point mutations,…

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