Enzyme-replacement therapy may slow disease progression and improve motor function in children with Pompe disease, according to a poster from the 2024 Muscular Dystrophy Association Clinical ...

Among patients with congenital thrombotic thrombocytopenic purpura, prophylactic therapy with recombinant ADAMTS13 restored normal levels of the enzyme, according to results of a randomized phase ...

A study evaluating a pioneering lentivirus (LV)-mediated gene therapy trial for classical Fabry disease showed promising ...

Ayla’s case, described Wednesday in the New England Journal of Medicine, was the first in which doctors provided this type of treatment — called enzyme replacement therapy, or ERT — in utero.

Scientists have successfully restored hearing in animal models of ENPP1 deficiency, a genetic disease in which individuals ...

Receipt of Fast Track designation underscores our belief that INZ-701 could serve as an important therapy for patients living with ABCC6 deficiency, notably for pediatric patients in whom this ...

Pombiliti and Opfolda together represent Amicus’s second commercialized therapy. The company’s first product, Galafold, treats Fabry disease, a different rare enzyme deficiency.

Primary Source New England Journal of Medicine Source Reference: Cohen J, et al "In utero enzyme-replacement therapy for infantile-onset Pompe's disease" N Engl J Med 2022; DOI: 10.1056/NEJMoa2200587.

More information: Hemanth R. Nelvagal et al, Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep, Journal of Clinical Investigation (2022). DOI: 10.1172/JCI163107 ...

Pancreatic enzyme replacement therapy (PERT) is an oral treatment that replaces the enzymes the pancreas does not produce. In many people, symptoms will improve or resolve with PERT.

Local News Enzyme Replacement Therapy Being Used To Treat Hunter Syndrome Posted 6:33 a.m. Nov 10, 2006 - Updated 5:11 a.m. Aug 23, 2006 ...