Drug testing for Duchenne MD, Leigh syndrome and Pompe disease moves forward; and two MDA-supported mouse studies suggest leads for myasthenia gravis and periodic paralysis
Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.
Proposals for implementation of widespread screening of newborn babies for Pompe disease and Duchenne muscular dystrophy were delivered to a federal advisory committee
Proposals exploring the feasibility and advisability of implementating newborn screening for two disorders in MDA's program — Duchenne muscular dystrophy and Pompe disease — were presented to a federal advisory committee in a "virtual" meeting Jan. 31 and Feb. 1, 2013.
Disease registry seeks input from people with congenital muscular dystrophies, congenital myasthenic syndromes or other congenital muscle disorders, including those with no clear diagnosis
An international patient registry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.
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:
Edison Pharmaceuticals has launched a phase 2b trial to test its small-molecule drug EPI-743 in adults with Friedreich's ataxia
Edison Pharmaceuticals has launched a phase 2b clinical trial of its experimental drug EPI-743 in adults with Friedreich's ataxia (FA) to assess whether the drug has positive effects on visual function, neurological and neuromuscular function, and disease-associated biomarkers.
In the past, children with rapidly progressive neuromuscular scoliosis often underwent growth-stopping spinal fusion. Today, there are more options.
Payton Mueller's parents knew something was amiss by the time he was 9 months old.
A woman with mitochondrial myopathy mounted a successful Facebook effort to assist a vent-dependent friend stranded with no power after Hurricane Sandy
“As you all know, being the creative type that I am, I love do-it-yourself projects … However, I found myself in the middle of a rather unusual project, which involved a lot of creative ‘thinking outside of the box,’ and it was more than just a do-it-yourself. It was more of a ‘do it ourselves’ project. And we did it. Successfully. Here’s the story of how we helped Nick Dupree.”