Amicus Therapeutics' experimental drug AT2220 has enhanced enzyme replacement therapy in a phase 2 trial in Pompe disease and is slated for further development
The experimental drug AT2220 has shown benefit as an enhancer of enzyme replacement therapy for the metabolic muscle disorder Pompe disease (acid maltase deficiency).
The drug, a pharmacological chaperone, is designed to:
Mice with a disorder mimicking myotubular myopathy showed improvements in muscle strength and function in response to a myotubularin-based enzyme replacement therapy
Update (Jan. 10, 2013): This story has been updated with additional information about MDA funding of this and related research projects.
Encouraging results have been reported for the first three dosage groups in a phase 2 trial of the 'pharmacological chaperone' AT2220
Biopharmaceutical company Amicus Therapeutics presented updated and encouraging results for its experimental Pompe disease (acid maltase deficiency) compound AT2220 this week at the 17th International Congress of the World Muscle Society in Perth, Australia.
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.
New drug trials in Becker and Duchenne muscular dystrophies are open, and a new strategy to improve Pompe disease treatment is proposed
PTC begins non-US study of ataluren in DMD/BMD
Quest takes a look at gene therapy, 'antisense' and other cutting-edge scientific approaches and how they're being applied to diseases in MDA's program
Antisense oligonucleotides block flawed genetic instructions
Antisense oligonucleotides — also called antisense, oligos, or simply AONs — are pieces of genetic code that keep other genetic code from being processed. Designed to pair up with a particular sequence of DNA or RNA, AONs can change, block or destroy targeted genetic instructions in a variety of ways.
"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.