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The function of the diaphragm, a major muscle in breathing, is significantly reduced over a year in adults with Pompe disease relative to healthy people, a small study showed. These deficits, detected through a chest MRI test, were not accompanied by significant changes in lung function tests. In addition,…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to MZE001, Maze Therapeutics‘ investigational oral treatment for Pompe disease. “Pompe disease is a serious and often fatal disorder, and MZE001 has the potential to offer patients an oral, disease-modifying option that improves clinical outcomes and…

A woman was diagnosed with advanced late-onset Pompe disease after three decades of being misdiagnosed, according to a recent case report. After diagnosis, the woman began treatment with Myozyme (alglucosidase alfa), which led to marked improvements that enabled her to live independently. The findings underscore a need for…

A report describes the unusual case of a man with late-onset Pompe disease (LOPD) that manifested with abnormalities in blood flow in the brain causing stroke-like symptoms. Abnormalities affecting blood vessels in the brain may be an under-recognized complication of LOPD, the researchers said. The study, “…

ABX1100, an experimental substrate reduction therapy that Aro Biotherapeutics is developing for Pompe disease, has been granted an orphan drug designation by the U.S. Food and Drug Administration (FDA). The FDA gives this designation to investigational treatments designed to improve care for rare diseases affecting fewer than…

A diet combining an oral ketone precursor — a molecule being studied as a dietary supplement — and a cocktail of natural antioxidant molecules boosts the efficacy of enzyme replacement therapy (ERT) at maintaining muscle strength and motor function in a mouse model of Pompe disease, a study…

A toddler girl with infantile-onset Pompe disease is able to walk independently and lives with a healthy heart after receiving treatment as a baby, according to researchers who used a combination of early enzyme replacement therapy (ERT) and immunotherapy. Immunotherapy helped tone down the body’s immune…

Certain protein modifications may enhance the ability of a therapeutically-delivered acid alpha-glucosidase (GAA) enzyme to be secreted and taken up by neighboring cells in models of Pompe disease, a study suggested. Such approaches could offer ways to improve the effectiveness of gene therapies for Pompe, although more work is…

A small study in the U.K. is evaluating a noninvasive MRI-based tool that could potentially detect late-onset Pompe disease (LOPD) without the need for invasive muscle biopsies. This specialized muscle MRI also would monitor glycogen buildup — a hallmark of the condition — in muscles over time. The…

Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.