Quest Magazine

Biobank Collecting Blood Samples for Neuromuscular Disease Research

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Large-Scale Trial of Idebenone in DMD is Now Open

A large-scale, phase 3 trial of idebenone (Catena) in Duchenne muscular dystrophy (DMD) is now open at one U.S. site and several sites in Europe, under the auspices of Santhera Pharmaceuticals.

$1.4 Million MDA Grant Will Help Develop SMA Drug

MDA has awarded a $1.4 million grant to the biopharmaceutical company Repligen Corp. to help advance the company’s experimental drug for spinal muscular atrophy (SMA) to phase 1 human clinical trials.

The drug, RG3039, has demonstrated potential throughout its early development, and is Repligen's lead therapeutic candidate for treatment of SMA.

ALS Research Briefs

Immune system regulator shows safety in ALS

Neuraltus Pharmaceuticals announced Nov. 30, 2010, that its experimental drug NP001 was safe and well-tolerated at four different dose levels when given as a single intravenous treatment to people with ALS. There was also a statistically significant improvement in blood levels of a biological marker (biomarker) thought to be involved in ALS disease progression.

Longer Chromosome Tips Mean Better Muscle Repair in DMD mice

Dystrophin-deficient mice (known as mdx mice) have been used in experiments as a model of human Duchenne muscular dystrophy (DMD) for decades. However, scientists have long noted that mdx mice, even though they develop a disease that mimics some aspects of human DMD, fare much better than human DMD patients. Mdx mouse muscles don't deteriorate as severely, and their ability to move and maintain heart function is far better than that of humans with the disease.

Research Briefs: DMD, BMD, CMD, SMA

Duchenne and Becker muscular dystrophies

Gene ID'd for Type 6 Nemaline Myopathy

A research group has identified specific mutations in a gene on chromosome 15 called KBTBD13 that cause a type of nemaline myopathy (NM), a disease in which thread- or rod-like ("nemaline") material forms clumps in affected muscle.

The newly identified mutations cause type 6 NM. A number of mutations in genes associated with other subtypes of the disease already have been identified.

Despite Objections, Medicare Competitive Bidding Set to Begin

Competitive bidding among Medicare providers of durable medical equipment, prosthetics, orthotics and supplies (DMEPOS) is set to begin January 1 in nine regions of the country, despite sharp criticism of the plan by lawmakers, economists, patient advocates and others.

Under the new procedures, DMEPOS providers must go through a competitive bidding process to win the right to serve Medicare recipients. Medicare pays these providers to serve the medical needs of millions of Americans who use medical supplies at home, including oxygen equipment and power wheelchairs.

'New and Important Player' Advances Understanding of ALS

A population of stem cells called NG2+ cells — which mature into central nervous system support cells called oligodendrocytes — exhibit significant developmental differences in healthy mice compared to mice with a disease resembling human ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease).

What's a 'Meaningful' Change for Those with ALS?

What's a meaningful change for someone with amyotrophic lateral sclerosis (ALS) or his or her caregiver? A new, MDA-supported study seeks to answer that question.

It's believed that physical or psychosocial changes associated with a new treatment that may be "statistically significant" when clinical trial results are analyzed may not be the same as changes that people with ALS and their caregivers consider meaningful.