Quest Magazine

"Anyone's Life Story" Shows Impact of ALS

ALS — a neuromuscular disease which can cause total paralysis and death within 5 years of diagnosis — often seems to come out of nowhere, striking active and athletic individuals in the prime of life.

ALS: Anyone’s Life Story,” MDA’s special feature for National ALS Awareness Month in May, makes the broad impact of this disease abundantly clear.

New Tools for Trials in Children with CMT

Two scales that can be used to assess disease progression and any response that may occur to a treatment have been developed for children with Charcot-Marie-Tooth (CMT) disease.

One, called the CMT Pediatric Scale, measures physical functioning. The second, called the Pediatric CMT Quality of Life Instrument, measures how the disease affects children's life experience. The two scales eventually will be merged, the investigators say.

Curcumin Helps Mice With CMT-Like Disease

Mice with a genetic mutation in the myelin protein zero (MPZ) gene, which develop a disease resembling human type 1B Charcot-Marie-Tooth disease (CMT1B), benefited from treatment with curcumin and curcumin derivatives, researchers announced April 15, at the 2010 meeting of the American Academy of Neurology (AAN), held in Toronto.

NT3 Gene Therapy for CMT1A Benefits Mice

Mice with a disorder resembling type 1A Charcot-Marie-Tooth (CMT1A) disease that received a single intramuscular injection of genes for the protein neurotrophin 3 (NT3) showed improvements in grip strength, ability to stay on a rotating rod, and strength of nerve signals, investigators reported April 15, at the 2010 meeting of the American Academy of Neurology, held in Toronto.

Caution: Immune Response Seen in DMD Gene Therapy

Unwanted responses by the immune system to dystrophin have been seen in a small, MDA-supported clinical trial of gene therapy for Duchenne muscular dystrophy (DMD)— an unexpected finding, investigators say.

Rather than a setback, the finding is “the beginning of a new way of thinking” about gene therapy, said Jerry Mendell, director of the Center for Gene Therapy at Nationwide Children's and a long-time MDA research grantee and MDA-associated clinician. Mendell was the neurologist on this trial.

DMD/BMD: Taking a Closer Look at Ataluren

PTC Therapeutics, a South Plainfield, N.J., biopharmaceutical company, has announced findings that reflect the company's closer look at a large-scale trial of its experimental drug ataluren.

The additional results, presented April 16 at the American Academy of Neurology  meeting in Toronto, show that trial participants who took the lower dose of ataluren did better on a six-minute walking test than did participants who took the placebo or higher dose.

Luring Away Myostatin Can Boost Muscle Size

ACE031, a laboratory-modified protein developed by Acceleron Pharma of Cambridge, Mass., has shown promise as a therapy to increase muscle mass, based on results of a trial in healthy volunteers. The company will now test it in Duchenne muscular dystrophy (DMD).

SMN Gene Transfer Benefits Mice

A research group from the University of Sheffield in the United Kingdom has found that mice with a disease mimicking human spinal muscular atrophy (SMA) benefited significantly from intravenous transfer of the gene for the SMN (survival of motor neurons) protein. The mice lived significantly longer than untreated mice of the same type.

More Good News about Exon Skipping

AVI4658, an experimental treatment for patients with Duchenne muscular dystrophy (DMD) caused by certain mutations in the gene for the muscle protein dystrophin, has shown promising results when delivered intravenously to 19 trial participants.

Narrowing Down CMT Subtypes

 

Editor's note:This story was updated Feb. 4, 2011, to reflect the availability of a paper and editorial on this subject in Annals of Neurology.

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