Quest Magazine

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.

Drisapersen Appears Safe in Non-Walking Boys with DMD

The multinational pharmaceutical company GlaxoSmithKline (GSK) has announced promising results for its phase 1 trial of the exon-skipping drug drisapersen in boys with Duchenne muscular dystrophy (DMD) who are no longer walking.

The phase 1 trial was designed to test safety, tolerability and pharmacokinetics (what the body does to the drug) of drisapersen, not to test drug efficacy.

MDA Observes National Family Caregivers Month

Society hasn't always appreciated the vital role fulfilled by family caregivers. It’s only been in the past 20 years that family caregivers — now more than 65 million strong — have been officially acknowledged. Every November, National Family Caregivers Month is observed in America as a time to thank, support, educate and empower these hardworking, creative and loving individuals.

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