Four children not making any acid maltase enzyme tolerated enzyme replacement therapy when also treated with immunosuppressants

posted on January 16, 2012 - 6:00am
Editor's note 2/2/12: This story was updated to reflect the award of a  new MDA grant to Eric Sjoberg at Amicus Therapeutics. Drugs that suppress the immune system can successfully prevent or reverse rejection of enzyme replacement therapy in Pompe disease (acid maltase deficiency), a new study has shown.

Mice with an OPMD-like disease treated with cystamine showed improved strength and muscle function and fewer cellular abnormalities

posted on June 9, 2010 - 12:43pm
Scientists in the United Kingdom have found that mice carrying a genetic mutation that causes oculpharyngeal muscular dystrophy (OPMD) in humans and showing a disease resembling human OPMD benefited from treatment with a chemical called cystamine, provided in their drinking water. About the new findings David Rubinsztein and colleagues at the University of Cambridge announced their findings June...