Spinal Muscular Atrophy (SMA)

SMA - Constantin d’Ydewalle, Ph.D.

Constantin d’Ydewalle, a postdoctoral fellow at Johns Hopkins School of Medicine in Baltimore was awarded an MDA development grant totaling $180,000 over three years to test a gene therapy designed to increase levels of SMN protein in spinal muscular atrophy (SMA).

SMA - Arthur Burghes, Ph.D.

Arthur Burghes, professor of biological chemistry and pharmacology, molecular genetics, and neurology at The Ohio State University Wexner Medical Center in Columbus, was awarded an MDA research grant totaling $188,613 over two years to refine how a genotype can be used to predict the severity of spinal muscular atrophy (SMA). Burghes will develop assays to test whether SMA patients have either intact or defective SMN2 genes, which serve as the backup for the SMN1 gene lost in SMA patients.

SMA - Kevin Foust, Ph.D.

Kevin Foust, assistant professor in the department of neuroscience at Ohio State University in Columbus, was awarded an MDA research grant totaling $293,378 over three years to investigate disruption of gut bacteria in spinal muscular atrophy (SMA). The gut microbiome is the collection of organisms that inhabit a healthy gastrointestinal (GI) tract.

Awesome Adventures


Reagan is MDA’s 2015 National Goodwill Ambassador.  Prior to that she served as the 2014 National Goodwill Ambassador and the Wisconsin State Goodwill Ambassador for three years.  Her favorite subjects are music, art and reading.  She began drawing at a very young age.  Reagan’s other “favorite” activity is dancing.

Reagan created this artwork to celebrate the 60th anniversary of MDA Summer Camp for youngsters affected with muscle diseases.

Isis Pharmaceuticals Reports Data from ISIS-SMN Rx in Children with Type 2 and 3 SMA

News: Isis Pharmaceuticals Reports Data from Phase 2 Study in Infants with Spinal Muscular Atrophy

SMA: ISIS-SMNRx To Be Tested in Presymptomatic Infants

Biogen Idec has announced plans to run a phase 2 clinical study of the experimental drug ISIS-SMNRx  in infants with spinal muscular atrophy (SMA)who are less than 6 weeks old and have a genetic diagnosis of the disorder but are not yet showing symptoms. 

Phase 3 Trial of ISIS-SMNRx Now Open for Children with SMA

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 studies could begin in the first half of 2015.

PTC To Test RG7800 in 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.

AveXis SMA Gene Therapy Trial Continues Recruiting

Dallas-based biotechnology company AveXis, which is developing gene therapy for spinal muscular atrophy (SMA), announced in October that administration of its experimental gene transfer compound to the first three patients in a