Quest Magazine

CCD Research Mouse Sheds New Light on Human Disease

Since 1993 — when mutations in the RYR1 gene were first linked to central core disease (CCD)— researchers have been trying to figure out exactly how these mutations cause the disease and what can be done to combat their deleterious effects.

Now, investigators in the United States, Canada and Germany have added an important piece to the CCD puzzle, through careful studies of mice with a particular mutation in the RYR1 gene that commonly causes human CCD.

VCP Gene Implicated in Familial ALS, IBM

A multinational study group, using cutting-edge "exome sequencing" technology, has uncovered five mutations in the valosin-containing protein (VCP) gene and implicated them as molecular causes of some familial forms of ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease).

VCP Gene Implicated in Familial ALS, IBM

A multinational study group, using cutting-edge "exome sequencing" technology, has uncovered five mutations in the valosin-containing protein (VCP) gene and implicated them as molecular causes of some familial forms of ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease).

Parents’ Perceptions Sought of DMD/BMD Ataluren Trials

If your child participated in a phase 2 clinical trial of ataluren (PTC124) for Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) conducted by PTC Therapeutics, you're invited to take part in a National Institutes of Health (NIH) study about the experience.

ALS Experts Gather to Exchange Ideas

New insights and perspectives on the biology of amyotrophic lateral sclerosis (ALS), best practices in the care of individuals with the disease, and future directions for development of ALS therapies were the central themes of the 21st International Symposium on ALS/MND (Motor Neuron Disease) that took place in Orlando, Fla., Dec. 11-13, 2010.

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.

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