Research

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, “…

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…

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.

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…

Administrating a stem cell gene therapy before beginning enzyme-replacement therapy (ERT) prevented the development of antibodies against the acid alpha-glucosidase (GAA) enzyme, improved survival, and enhanced therapeutic benefits in a mouse model of Pompe disease, a recent study found. “Together, this study indicates that [stem cell] gene therapy induces…

Lower urinary tract symptoms, including a loss of bladder control and unusual urine flow, are prevalent among children with classic infantile-onset Pompe disease (IOPD) who begin treatment early with enzyme-replacement therapy (ERT), according to a small study. Findings suggest that “pediatricians should actively seek to recognize children with IOPD…

Pain is relevant but appears to be unrelated to damage to small nerve fibers in the skin of late-onset Pompe disease patients who are using enzyme replacement therapy, a study found. The study, “Small fiber involvement is independent from clinical pain in late-onset Pompe disease,” was published in…