Quest Magazine

DMD: Sarepta to Submit New Drug Application to FDA for Eteplirsen in 2014

 In a July 24, 2013, press release and conference call, biotechnology company Sarepta Therapeutics provided an update on the regulatory pathway for eteplirsen, the company’s experimental drug for Duchenne muscular dystrophy (DMD) caused by specific mutations in the dystrophin

Study of Pregnancy in Women with Myotonias

Investigators at the University of Rochester (N.Y.) are seeking participants for a questionnaire-based study of pregnancy and delivery in women with nondystrophic myotonias. No travel is required.

Nondystrophic myotonias included in this study are:

Multicenter Trial to Test Safety of Mexiletine in Sporadic ALS

The Northeast Amyotrophic Lateral Sclerosis Consortium (NEALS) is actively seeking participants for a phase 2 clinical trial that will evaluate the safety and tolerability of mexiletine in people with the sporadic form of amyotrophic lateral sclerosis (ALS).

Approximately 90 to 95 percent of ALS is sporadic, in which there is no known family history of the disease.

Friedreich's Ataxia Registry Open for Enrollment

The Coordination of Rare Diseases at Sanford (CoRDS) national rare disease registry is now hosting an ataxia patient registry for people with Friedreich's ataxia (FA) or other disorders classified as ataxias (conditions that cause problems with balance or coordination).

CMD: Aiming Simultaneously at Two Biological Targets

Researchers at Boston University, supported in part by MDA, say their experimental two-pronged strategy for merosin-deficient congenital muscular dystrophy (MDC1A) was highly successful in a mouse model of this disease and should be further investigated as a potential treatment approach for patients.

Turning Myotonic Dystrophy On and Off in Cells

MDA grantee Matthew Disney is a current and former MDA grantee at the Scripps Research Institute in Jupiter, Fla. Disney's current MDA grant is focused on targeting toxic RNA in type 2 myotonic dystrophy (MMD2, or DM2).

Computer Error Results in Wrong Participants Getting Placebo in Tirasemtiv Trial

South San Francisco biotechnology company Cytokinetics announced July 8, 2013, that a computer program error occurred in its phase 2b BENEFIT-ALS clinical trial designed to evaluate the safety, tolerability and potential efficacy of tirasemtiv in people with amyotrophic lateral sclerosis (ALS)

DMD/BMD: Questions About Ataluren’s Mechanism

It's been widely accepted that the mechanism by which the experimental drug ataluren appears to benefit walking ability in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is that it causes "read-through" of premature stop codons — genetic instructions that cause cells to stop making a protein before the process is complete.

DMD: Drisapersen Receives ‘Breakthrough Therapy’ Designation

Multinational pharmaceutical company GlaxoSmithKline (GSK) has announced that its experimental Duchenne muscular dystrophy (DMD) drug drisapersen has received breakthrough therapy designation from the U.S. Food and Drug Administration.

A ‘Transport Problem’ May Cause Motor Neuron Death

Axonal transport is the process that is responsible for moving nutrients, proteins and other vital cellular cargo to and from the cell bodies in motor neurons – the muscle-controlling nerve cells that are lost in amyotrophic lateral sclerosis (ALS).

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