Pompe disease

Amicus Therapeutics' experimental drug AT2220 has enhanced enzyme replacement therapy in a phase 2 trial in Pompe disease and is slated for further development

posted on February 15, 2013 - 4:29pm
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:

Clinical trial testing experimental enzyme replacement drug in people with Pompe disease who are at least 13 years old

posted on November 8, 2011 - 10:08am
Update (March 27, 2013): BioMarin announced March 19, 2013, that it plans to move to a phase 2/3 trial of this drug for late-onset Pompe diseae, pending a review by regulatory authorities. See Pompe disease: Late-onset treatment moves forward.

News about research in congenital myasthenic syndromes, Duchenne and limb-girdle muscular dystrophies, Pompe disease and induced pluripotent stem cells

posted on February 25, 2011 - 2:34pm
Congenital myasthenic syndromes A multinational team of scientists has identified mutations in the gene for glutamine-fructose-6-phosphate transaminase 1 (GFPT1) as responsible for some forms of a congenital myasthenic syndrome (CMS).

The approval of Myozyme in 2006, after decades of research, has transformed Pompe disease from a severely disabling or fatal condition into a treatable, chronic disorder. But responses to the drug vary, its cost is high, and some questions remain unanswered.

posted on January 1, 2009 - 2:25pm
QUEST Vol. 16, No. 1
Mia Hanley of Cranston, R.I., looks pretty much like any 4-year-old preschooler. She’s a normal height and weight, walks well and has good language skills. In fact, when she started preschool at age 3, her fine motor skills were so good that she didn’t qualify for special services in that area. Looking at Mia, most people would never suspect she spends every other Friday at Hasbro Children’s...