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)
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
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...
Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification
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
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.
Pediatrics report focuses on respiratory care for children with neuromuscular diseases
The proceedings of a symposium titled "Pulmonary Management of Pediatric Patients with Neuromuscular Disorders" have been published as a supplement to the May 2009 issue of the journal Pediatrics.
The symposium was held Feb. 20, 2008, at Scottish Rite Hospital in Dallas, and was sponsored by MDA, as well as Respironics and Hill-Rom Services.
Topics, all of which pertain specifically to children...
This report provides an overview of spinal muscular atrophy (SMA), a disease in which a loss of nerve cells in the spinal cord causes weakness or paralysis of variable severity.
The International Spinal Muscular Atrophy Patient Registry, founded in 1986 at Indiana University, brings together individuals and families affected by SMA, and researchers studying SMA.
The Registry contains information from more than 1,600 families and 1,700 individuals with SMA around the world. In addition to recruiting participants for clinical trials and providing data for SMA research...