The function of the diaphragm, a major muscle in breathing, is significantly reduced over a year in adults with…
Articles by Marta Figueiredo, PhD
A diet combining an oral ketone precursor — a molecule being studied as a dietary supplement — and a cocktail…
The levels of BNIP3, a protein implicated in muscle fiber atrophy and increased autophagy — two features of late-onset…
The first healthy volunteers have been dosed in a Phase 1 clinical trial evaluating MZE001, Maze Therapeutics’ experimental oral…
Long-term treatment with Nexviazyme (avalglucosidase alfa) safely and effectively improves lung function and walking ability in children and adults…
People with late-onset Pompe disease (LOPD) do not show significant brain abnormalities or general cognitive impairment, in contrast with…
L-carnitine — a molecule often taken as an oral dietary supplement — boosts the efficacy of enzyme replacement therapy…
Fatigue, pain, muscle weakness, and breathing difficulties are the most common and highly disabling symptoms of late-onset Pompe disease…
Electrical impedance myography (EIM), a non-invasive and painless muscle test that can be conducted at home, is associated significantly with…
AT-GAA, an investigational therapy by Amicus Therapeutics for late-onset Pompe disease, will be available to select patients…