Quest Magazine

DMD: Sarepta Expands Exon-Skipping Program

Biopharmaceutical company Sarepta Therapeutics has announced it will expand the focus of its exon-skipping program for Duchenne muscular dystrophy (DMD) by developing compounds that target exons 45, 50 and 53 of the dystrophin gene, in addition to continuing to develop eteplirsen, which targets ex

Regulatory Cells Associated with Speed of ALS Progression

Immune system cells known as regulatory T cellsT-regs for short — have been found to play a protective role in mice with a disorder that resembles human amyotrophic lateral sclerosis (ALS). They don't prevent the disease in genetically susceptible mice, but they do appear to slow it down, probably by putting a brake on inflammation in the central nervous system.

Competition Solves Genetic Mystery for Boy with CNM

Update (Dec. 4, 2012):This story was updated to reflect that the 13 previously identified genes that were tested as potentially associated with Adam Foye's disease were genes for various disorders that cause muscle weakness, not just centronuclear myopathy. Including titin, there are five genes now known to be associated with CNM.

Study Shows Increased Life Span in DMD in Recent Decades

Findings from a study of 516 Italian boys show a significant improvement over the last six decades in survival time in Duchenne muscular dystrophy (DMD).

Experimental Drug Being Tested in Mitochondrial and Metabolic Disorders, FA

Trial of Antisense Drug Opens for Children with SMA

A phase 1b/2a trial to test the safety and tolerability of multiple doses of the experimental drug ISIS-SMNRx in children with spinal muscular atrophy (SMA) is now open at sites in New York and Salt Lake City, with additional sites expected to open in Boston and Dallas.

Investigators hope to enroll a total of 24 children with SMA ages 2 to 15 in the trial.

ALS Briefs: Serotonergic Neurons and Counteracting Problematic Proteins

Nerve cells called serotonergic neurons degenerate in amyotrophic lateral sclerosis (ALS) and may influence the ALS disease process, an international research team has reported. In particular, the loss of these specialized cells appears to be linked to increased muscle tone or tightness (spasticity).

Scientists Find Cause of Type 2 FSHD

Update (Nov. 14, 2012): This story has been updated to reflect information about genetic testing.

Webinar: ALS and the National Football League

A webinar (Web-based seminar) about neurodegenerative causes of death, including amyotrophic lateral sclerosis (ALS), in retired National Football League (NFL) football players is scheduled for 1 p.m. EST, Nov. 15, 2012.

ALS: Phase 2 Clinical Trial for NP001 Shows Possible Benefit

Results from a completed phase 2 trial of the experimental therapy NP001 in people with amyotrophic lateral sclerosis (ALS) show that in some trial participants, the drug appeared to be effective at slowing or stopping progression of the disease.