Marta Figueiredo, PhD, science writer —

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,…

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…

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…

The first healthy volunteers have been dosed in a Phase 1 clinical trial evaluating MZE001, Maze Therapeutics’ experimental oral therapy for Pompe disease. “The initiation of this study is a significant milestone for both Maze and the Pompe community as we advance into the clinic with a potentially…

Long-term treatment with Nexviazyme (avalglucosidase alfa) safely and effectively improves lung function and walking ability in children and adults with late-onset Pompe disease (LOPD), according to nearly two years of data from the Phase 3 COMET trial. These findings, along with positive long-term results from the Phase 2…

People with late-onset Pompe disease (LOPD) do not show significant brain abnormalities or general cognitive impairment, in contrast with some patients with the classical infantile-onset form, a study shows. The study, “Is the brain involved in patients with late-onset Pompe disease?,” was published in the…

L-carnitine — a molecule often taken as an oral dietary supplement — boosts the efficacy of enzyme replacement therapy (ERT), increasing by four times the activity of acid alpha-glucosidase (GAA), the faulty enzyme in Pompe disease, in patient-derived cells, a study shows. The molecule was found to stabilize…

Fatigue, pain, muscle weakness, and breathing difficulties are the most common and highly disabling symptoms of late-onset Pompe disease (LOPD), according to a study that combined data collected from published literature, expert clinician interviews, and patient interviews. In addition, patients reported that mobility problems had the most impact on…

Electrical impedance myography (EIM), a non-invasive and painless muscle test that can be conducted at home, is associated significantly with functional measures in adults with late-onset Pompe disease (LOPD), according to a small study. Notably, similar EIM results were obtained when the test was performed by patients at home using…

AT-GAA, an investigational therapy by Amicus Therapeutics for late-onset Pompe disease, will be available to select patients in the U.K. through an early access program before its potential regulatory approval. Eligible patients are adults who have received the enzyme replacement therapy (ERT) alglucosidase alfa — the…