Quest Magazine

Second Mouse Model of Periodic Paralysis Developed

Scientists supported in part by MDA have developed a second type of research mouse with a disorder mimicking hypokalemic periodic paralysis, a genetic disorder in which recurrent attacks of weakness or paralysis occur in association with low potassium levels in the bloodstream. Like the majority of humans with this disorder, the mice have a mutation in the gene for a muscle-fiber calcium channel, a key player for the initiation of muscle contraction.

ALS Briefs: Clinical Trial Updates at the 2012 ALS/MND Symposium

The 23rd International Symposium on ALS/MND (motor neuron disease), held in Chicago Dec. 5-7, 2012, brought together more than 900 researchers, clinicians and other health care professionals from 30 countries to hear presentations on the latest in ALS care and research.

Tirasemtiv Shows Promise in MG

The experimental drug tirasemtiv has shown promise in a phase 2a clinical trial in 32 people with myasthenia gravis (MG). Improvements in general and respiratory muscle function occurred in response to the medication.

Six hours after receiving a single, oral dose of tirasemtiv, study participants showed improvements on a standardized scale of MG severity (the Quantitative MG score) and in forced vital capacity, a measurement of respiratory function.

DMD: Eteplirsen Results Still Strong at 62 Weeks

Eteplirsen, an exon-skipping drug in development by Sarepta Therapeutics to treat Duchenne muscular dystrophy (DMD) caused by specific mutations in the dystrophin gene, continues to show benefit at 62 weeks with respect to the distance walked in six minutes.

What’s Next for Eteplirsen? Sarepta Discusses FDA Approval and Future Trials

In both October and December 2012, Sarepta Therapeutics announced very encouraging results from a 12-person phase 2b trial of eteplirsen, an exon-skipping compound that is a potential treatment for Duchenne muscular dystrophy.

Eteplirsen targets exon 51 of the dystrophin gene and is designed to treat DMD caused by specific dystrophin mutations.

MDA Building ‘Transitional Freedom’ Partnerships

Like many high school seniors, Drew is busy choosing a college and preparing for the big transition from life at home to life on a college campus. Unlike his peers, Drew has Duchenne muscular dystrophy.

European Agency to Consider Conditional Approval of Ataluren for DMD

Update (Dec. 6, 2012): This story has been updated with additional information about next steps for ataluren.

ALS Research Briefs: Protein Biomarker and Stem Cells

Protein test predicts ALS progression

It’s known that levels of a protein called phosphorylated neurofilament heavy subunit (PNF-H) are increased in the spinal fluid of people with amyotrophic lateral sclerosis (ALS). Now, a team of researchers has demonstrated that higher levels of PNF-H in both the blood and spinal fluid are associated with a faster rate of ALS disease progression and shorter survival time.

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.