Spinal Muscular Atrophy (SMA)

SMA - Lyndsay Murray, Ph.D.

Lyndsay Murray, a lecturer in anatomy at  the University of Edinburgh in Scotland, has been awarded an MDA development grant totaling $152,280 over three years to determine the earliest changes in gene activity that occur in spinal muscular atrophy (SMA). By conducting experiments in mice with and without an SMA-like disorder, Murray and colleagues will study the genetic changes that occur prior to the death of nerve cells in the SMA-like condition.

SMA - Rashmi Kothary, Ph.D.

Rashmi Kothary, a senior scientist in the Regenerative Medicine Program at Ottawa Hospital Research Institute in Canada, has been awarded an MDA research grant totaling $253,800 over three years to further investigate a potential new treatment approach for spinal muscular atrophy (SMA) . Kothary and colleagues will continue to develop inhibitors of an enzyme called rho kinase to see if they are beneficial in this disease. Early experiments in mice have shown promise.

SMA - Stephen Kolb, M.D., Ph.D.

Stephen Kolb, an assistant professor in the Departments of Neurology and of Molecular & Cellular Biochemistry at Ohio State University, has been awarded an MDA human clinical trial grant totaling $183,354 over three years as supplemental funding for the SMA NeuroNEXT biomarkers study. This study is being conducted by the U.S. National Institutes of Health (NIH) to compare children with and without spinal muscular atrophy (SMA) during the first two years of life.

SMA: Further Data on ISIS-SMNRx Shows Promising Results

Isis Pharmaceuticals, developer of the experimental spinal muscular atrophy (SMA) drug ISIS-SMNRx, revealed positive results from phase 2 clinical studies of the drug focusing on infants and children with SMA. The new data, which was shared on October 10 by ISIS representatives attending the 19th International World Muscle Society Congress in Berlin, included the following highlights:

ISIS-SMNRx to Be Tested in Phase 3 Trial in Infants With SMA

California-based Isis Pharmaceuticals has announced the opening of a phase 3 clinical trial of its experimental drug ISIS-SMNRx in infants with spinal muscular atrophy (SMA), a muscle-weakening disease that results from loss of nerve cells in the spinal cord.

First Human SMA Gene Transfer Therapy Trial Opens

A phase 1 trial to test the safety and efficacy of gene transfer therapy in infants with type 1 spinal muscular atrophy (SMA) who are 9 months old or younger has opened at Nationwide Children's Hospital in Columbus, Ohio, under the direction of neurologist Jerry Mendell.

SMA: ISIS-SMNRx Shows Benefit in Infants, Children

Update (Aug. 1, 2014): The phase 2 infant study of ISIS-SMNRx is now closed to new participants. However, a phase 3 study of this drug has opened. See ISIS-SMNRx to Be Tested in Phase 3 Trial in Infants With SMA.


original story:

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

SMA: Olesoxime Results Look Promising

Update (May 2, 2014): Trophos, developer of olesoxime to treat SMA, announced more detailed results from this trial at the spring 2014 annual meeting of the American Academy of Neurology and in an April 28, 2014, press release.

SMA: Interim Results Look Promising for SMN-Raising Drug

Interim results of a phase 2 clinical trial to test multiple doses of the experimental drug ISIS-SMNRx in infants with spinal muscular atrophy (SMA) suggest that the drug is well-tolerated and may prolong ventilator-free survival.