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 . . .
In September, the Data Safety and Monitoring Board (DSMB), constituted to oversee the Diaphragm Pacing System in Participants with Amyotrophic Lateral Sclerosis (DPS in ALS) study, being conducted in the United States, issued a recommendation that new enrollment be halted. At the same time, the DSMB recommended that patients already randomized to the diaphragm pacing . . .
– Importance of USPTO decision not ascertainable until determinations are rendered in two remaining composition interferences and planned appeal – CAMBRIDGE, Mass.–(BUSINESS WIRE)–Sep. 30, 2015– Sarepta Therapeutics, Inc. (NASDAQ:SRPT), a developer of innovative RNA-targeted therapeutics, today announced that the Patent Trial and Appeal Board (PTAB) of the United States Patent and Trademark Office (USPTO) has . . .
Criss Hartzell, professor of cell biology at Emory University School of Medicine in Atlanta, Ga., recently was awarded an MDA research grant to study the ANO5 gene. Mutations in the gene have been implicated in both type 2L limb-girdle muscular dystrophy (LGMD) and a subtype of Miyoshi distal muscular dystrophy (a type of distal muscular dystrophy, . . .
Priority of U.S. Patent Claims Confirmed by U.S. Patent Trial and Appeal Board (PTAB) SAN RAFAEL, Calif., Sept. 29, 2015 (GLOBE NEWSWIRE) — BioMarin Pharmaceutical Inc. (Nasdaq:BMRN) today announced that the Patent Trial and Appeal Board (PTAB) issued a decision in favor of BioMarin’s claims to the use of exon 51 antisense oligonucleotides to treat . . .