SMA-1 / Werdnig-Hoffmann Disease (SMN1)

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.

One-hour webinar, ‘Straightening the Growing Spine,” describes bracing and surgery options for children with a spinal curvature caused by a neuromuscular disorder

posted on January 25, 2013 - 10:23am
A one-hour, MDA-sponsored webinar features two physicians and the parent of a child with spinal muscular atrophy (SMA) who has undergone bracing and surgery for a spinal curvature, as well as questions and answers from listeners.

The National Institutes of Health has launched a biomarkers and natural history study in infants with type 1 spinal muscular atrophy

posted on September 18, 2012 - 10:25am
Update (March 28, 2013): This story was updated with a link to the ClinicalTrials.gov site for this study.

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...

Quest shares lessons from parents who have successfully helped their children with muscle diseases grow into self-reliant adults

posted on October 1, 2011 - 3:32pm
QUEST Vol. 18, No. 4
When Vance Taylor was a boy, he didn’t know any adult he could look to and say, “There’s somebody like me.” His mother, Morena Noyes, recalls the first time she took Vance and his sister Kathy — both of whom have limb-girdle muscular dystrophy — to MDA summer camp. “We were still in the parking lot, in our Astro van,” Noyes says. “Vance looked, and then he turned to his sister and said, ‘Kathy,...
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