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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.

The U.S. Food and Drug Administration (FDA) has placed a clinical hold on the FORTIS Phase 1/2 trial of AT845, a single-dose gene therapy for adults with late-onset Pompe disease (LOPD). The decision was due to a study participant developing peripheral sensory neuropathy — nerve damage outside the brain…

The European Commission has approved the next-generation enzyme replacement therapy Nexviadyme (avalglucosidase alfa) to treat both late-onset and infantile-onset Pompe disease. This is the first time a new treatment for Pompe has been approved in Europe since 2006, according to Nexviadyme’s developer Sanofi Genzyme. “For more than…

Age and the use of an assistive device like a walker may tell how well a patient with late-onset Pompe disease will do in a six-minute walk test (6MWT), a small study suggests. The 6MWT is considered a gold standard for determining, through difficulties in walking, the severity of…

The levels of BNIP3, a protein implicated in muscle fiber atrophy and increased autophagy — two features of late-onset Pompe disease (LOPD) — are increased in muscle samples from LOPD patients relative to healthy people, a small study shows. Autophagy is a pathway by which cells break down damaged…