SMA-2 / Intermediate SMA (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 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

Canines that don't make the cut at other service-animal training programs are welcome at Phoenix Assistance Dogs

posted on October 1, 2011 - 8:49am
QUEST Vol. 18, No. 4
From the moment Linzey Zoccola received her first service dog at age 16, she knew what she wanted to do with her life. Zoccola has type 2 spinal muscular atrophy and has used a power chair since the age of 4. She has always been strongly independent, but having a service dog was a revelation. Here was a creature that not only brought her joy and companionship, but also helped her perform tasks at...

Canines that don't make the cut at other service-animal training programs are welcome at Phoenix Assistance Dogs

posted on August 26, 2011 - 2:15pm
From the moment Linzey Zoccola received her first service dog at age 16, she knew what she wanted to do with her life. Zoccola has type 2 spinal muscular atrophy and has used a power chair since the age of 4. She has always been strongly independent, but having a service dog was a revelation. Here was a creature that not only brought her joy and companionship, but also helped her perform tasks at...