American Academy of Neurology - 2010

Two new pediatric scales measuring physical functioning and quality of life are good news for future clinical trials in Charcot-Marie-Tooth

posted on April 23, 2010 - 9:59am
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...

Curcumin (which makes the spice turmeric yellow) benefited mice with a disease resembling type 1B Charcot-Marie-Tooth

posted on April 21, 2010 - 4:25pm
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.

After a single injection, mice with a disease resembling type 1A Charcot-Marie-Tooth showed  improved strength and nerve signaling

posted on April 21, 2010 - 3:49pm
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.

An unexpected immune response to dystrophin has researchers proceeding cautiously; the finding changes how future gene therapy trials will be conducted

posted on April 21, 2010 - 10:59am
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...

Trial participants receiving a low dose of ataluren did better than those receiving a placebo or high dose, additional analysis reveals

posted on April 19, 2010 - 4:35pm
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...

Tests show the myostatin inhibitor ACE031 can safely increase muscle size, a finding that could benefit many forms of neuromuscular disease

posted on April 16, 2010 - 9:26am
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).

British researchers report injections of SMN genes significantly increased life span in mice with a disease resembling spinal muscular atrophy

posted on April 15, 2010 - 4:14pm
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.

A trial of AVI4658, an experimental exon skipping construct for DMD, resulted in dystrophin production and appears safe

posted on April 15, 2010 - 3:57pm
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.