Nervous system 'support' cells contribute to ALS

MDA-supported researchers discover that support cells called astrocytes in the nervous system likely play a larger role in amyotrophic lateral sclerosis than previously believed, opening new targets for therapy.

'Read-through' drug restores dystrophin in DMD-affected boys

The experimental medication PTC124, developed by PTC Therapeutics of South Plainfield, N.J., with MDA support, restores production of the needed protein dystrophin in six boys with Duchenne muscular dystrophy who took it at a high dose for a month. Earlier, about half of 26 boys with DMD who took PTC124 at a lower dose also began making dystrophin. The drug is designed to make muscle cells ignore an aberrant molecular “stop sign” in the dystrophin gene.

Exon-skipping compound restores dystrophin production in DMD

Four boys with DMD who received muscle injections of an exon-skipping compound called PRO051, developed by the Dutch company Prosensa and by an MDA-supported scientist at Leiden (Netherlands) University, begin making the needed protein dystrophin in a leg muscle.

New SMA gene identified

MDA-supported researchers identify an X-chromosome gene that causes a rare form of spinal muscular atrophy. The finding may yield additional information about all forms of this disease.

High-dose vitamin C to be tested in CMT

An MDA-supported trial will test the hypothesis that high-dose vitamin C may help patients with type 1A Charcot-Marie-Tooth disease, a disorder of peripheral nerves, after studies in mice with a CMT-like disease appear promising.