SMA-4 / Adult SMA

Stanford University is collecting samples of blood, muscle and other tissues from people with neuromuscular disorders for use in research

posted on January 7, 2015 - 12:06pm
Ever wondered how someone with a neuromuscular disorder in his or her family might contribute to research efforts in this field?

Isis Pharmaceuticals has opened a second phase 3 trial to test its "antisense" drug for spinal muscular atrophy in children ages 2 to 12

posted on November 21, 2014 - 10:19am
Update (Dec. 1, 2014): Isis has announced that its partner, Biogen Idec, plans to conduct a phase 2 trial of ISIS-SMNRx in up to 25 presymptomatic newborns genetically predisposed to develop SMA, as well as a phase 2 study of this drug in approximately 20 patients with infantile or childhood-onset SMA who do not meet the inclusion criteria for the current phase 3 studies. These two additional...

The investigational compound is designed to raise levels of the SMN protein, a lack of which is the underlying cause of spinal muscular atrophy (SMA)

posted on November 19, 2014 - 3:36pm
PTC Therapeutics, a South Plainfield, N.J., biopharmaceutical company, says it will soon open a trial to test the safety and tolerability of its investigational drug RG7800 in adults and children with spinal muscular atrophy (SMA). The announcement was made in a Nov. 19, 2014, press release.

The pace of research can seem unreasonably slow; here are a few reasons why

posted on January 1, 2012 - 3:11pm
QUEST Vol. 19, No. 1
John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...
posted on October 1, 2011 - 10:09am
QUEST Vol. 18, No. 4
Featured in this update: Families, experts meet at BMD ConferenceThree trials study blood-vessel-dilating drugs in BMD, DMDResults of daily, weekly prednisone treatment about the same in DMD

Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification

posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases

The biggest problem at an ER may not be the one you go in with, but the one you encounter there

posted on July 1, 2011 - 4:18pm
QUEST Vol. 18, No. 3
When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

Preserving a shortened version of the SMN protein rescued SMN-deficient cells, opening the door to a possible new therapeutic strategy

posted on March 17, 2010 - 4:26pm
A research team at the University of Pennsylvania in Philadelphia has characterized the mechanism responsible for rapid decay of the survival of motor neurons (SMN) protein that is encoded by the human SMN2 gene and which plays a key role in a variety of therapeutic strategies under development for spinal muscular atrophy (SMA).