Jacob Smith, Age 13 Burlington, WI Home and Family Jacob lives with his mom Bobbi Ann, dad Kerry, and sister Jessica. Jacob’s dog Minnie is small enough to ride with him in his power wheelchair! Diagnosis Jake was diagnosed with Spinal Muscular Atrophy Type 2 at 14-months of age. Spinal muscular atrophy (SMA) is a . . .
Anthony McCumber, Age 10 Bar Nunn, WY Home and Family Anthony lives with his mom and stepdad, Darshee and Derek Buist, his sister Terra, and stepbrothers Xavier and Zayden. Diagnosis Anthony is diagnosed with Limb-Girdle Muscular Dystrophy. Limb-Girdle muscular dystrophy isn’t one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the . . .
The other day a friend complimented me on my positive attitude and asked how I managed to “find the funny” in everyday things. My reply? “I don’t go looking for it — it finds me! To help you understand, I’ll share a couple of stories from some of my past medical visits to the ALS Clinic. . . .
Rita Sattler, associate professor of neurobiology at Barrow Neurological Institute, Dignity Health – St. Joseph’s Hospital in Phoenix, was awarded an MDA research grant totaling $300,000 over three years to elucidate the mechanisms underlying ALS (amyotrophic lateral sclerosis) caused by expansions in the C9ORF72 gene. Please describe your current research. The goal is to study . . .
Terra McCumber, Age 9 Bar Nunn, WY Home and Family Terra lives with her mom and stepdad, Darshee and Derek Buist, her brother Anthony, and stepbrothers Xavier and Zayden. Diagnosis Terra is diagnosed with Limb-Girdle Muscular Dystrophy. Limb-Girdle muscular dystrophy isn’t one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the . . .
Diane Merry, associate professor at Thomas Jefferson University in Philadelphia, is working to identify therapeutic opportunities to promote normal androgen receptor function while preventing the toxic effects of polyglutamine expansion in spinal-bulbar muscular atrophy (SBMA). With GlaxoSmithKline, Merry will test small molecule compounds that activate an enzyme called SIRT1 in cell and mouse models of . . .
Background: PTC Therapeutics yesterday announced results from the phase 3 “ACT DMD” trial of ataluren, an oral, first-in-class, protein restoration therapy for the treatment of nonsense mutation Duchenne muscular dystrophy (DMD). The trial results showed clinically meaningful benefits for ataluren-treated patients, indicating the drug may slow functional decline in DMD patients, with some patients apparently . . .
Antoine de Morrée, a postdoctoral scholar at Palo Alto Veterans Institute for Research and Stanford University in Palo Alto, Calif., is testing a way to stop muscles from making toxic DUX4 protein as a possible treatment forfacioscapulohumeral muscular dystrophy (FSHD). The goals of de Morrée’s work are to understand how cells make stabile RNA messages, . . .
Legislation Helps Ensure Access to Clinical Trials for People with Rare Diseases On October 7, 2015, President Obama signed into law the Ensuring Access to Clinical Trials Act of 2015 (S. 139/H.R. 209) (EACT), which removes a barrier to participating in rare disease clinical trials. EACT makes permanent a law that allows individuals to participate . . .
Background: Sarepta Therapeutics reported today additional long-term clinical efficacy and safety data from its pivotal phase 2b program of eteplirsen to treat Duchenne muscular dystrophy (DMD). The data demonstrated that over a three-year period of time, trial participants who were treated with eteplirsen experienced a slower rate of decline and were, on average, able to . . .