Disease registries are seeking participants with CMD, FSHD, LGMD, MMD and Pompe disease
FSHD, MMD: Registry remains open
The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular dystrophy (MMD, or DM), and their families, about its registry to advance research in these two disorders.
Adding a cell-penetrating peptide to a compound that reduces clump formation in cell nuclei increased its effectiveness in type 1 myotonic dystrophy research mice
Scientists at the biopharmaceutical company Genzyme, working with mice, say they have modified and improved an existing experimental strategy to treat type 1 myotonic muscular dystrophy (MMD1, also known as DM1).
A study of 11 long-term survivors of infantile-onset Pompe disease shows enzyme treatment can provide significant benefits, but deficits remain
A study of 11 children with infantile-onset Pompe disease (acid maltase deficiency) who started enzyme replacement therapy by the time they were 6 months old has shown the treatment can markedly improve the course of the disease, but that residual deficits persist.
After restructuring its agreement with Genzyme, PTC will continue developing ataluren for nonsense-mutation DMD/BMD and will study the drug in former trial participants
Update (July 25, 2012): This story was updated to reflect the fact that PTC has announced its intention to begin an open-label trial of ataluren in DMD/BMD for former ataluren trial participants in Europe, Israel and Australia.
Mice with a severe SMA-like disease that were injected with a synthetic "antisense" molecule developed bigger, more structurally sound muscles than untreated mice
A team of research scientists has found that mice with a disease resembling a severe form of spinal muscular atrophy (SMA) that were treated with a gene-modifying molecule produced more of a needed protein throughout their spinal cords; developed bigger, stronger muscles; and survived longer than expected.
"Lumizyme has stopped the progression of my disease," says one of first to receive the drug since the FDA granted commercial approval
Update (Aug. 4, 2014): The U.S. Food and Drug Administration (FDA) has expanded the approval of Lumizyme so that it can now be used to treat Pompe disease patients of all ages, including children younger than age 8. See FDA Expands Approval of Drug to Treat Pompe Disease to Patients of All Ages; Removes Risk Mitigation Strategy Requirements, Aug. 1, 2014.
A decision on approval for Lumizyme, a treatment for Pompe disease, is expected in June
Biotechnology company Genzyme, of Cambridge, Mass., expects the U.S. Food and Drug Administration (FDA) to rule by June 17, 2010, on Genzyme's application to market its laboratory-developed enzyme Lumizyme (alglucosidase alfa) in the United States.
Lumizyme and its near-twin, Myozyme, replace the acid maltase enzyme deficient in people with Pompe disease (acid alpha-glucosidase deficiency or acid...