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Research News

[title]
ALS Clinical Trials Briefs: Cytokinetics, Neuralstem Advance
November 10, 2011
Editor's note 3/19/12: This story has been updated to reflect that Neuralstem has begun testing its stem cells in the cervical (neck) region of the spinal cord. Two human clinical trials to test
[title]
Researchers Studying CMT1B, CMT2A, CMT4A, CMT4C, Others
November 09, 2011
A large-scale study, supported in part by MDA, seeks to determine the natural history (general disease course) of four subtypes of Charcot-Marie-Tooth disease (CMT), with particular emphasis on
[title]
Albuterol Improved Quality of Life in Two Forms of CMS
November 09, 2011
Researchers have found that the drug albuterol appears to be beneficial in two forms of congenital myasthenic syndrome (CMS)— CMS related to mutations in the collagen Q (colQ) gene and CMS related to
[title]
BioMarin Testing Drug in Late-Onset Pompe Disease
November 08, 2011
BioMarin Pharmaceutical is seeking participants for a clinical trial testing the safety and tolerability of its experimental drug BMN701 in adolescents and adults with late-onset Pompe disease (acid
[title]
Experimental Drug Seems to Slow Respiratory Decline in DMD
November 04, 2011
Update (Sept. 19, 2012):This story was updated to reflect the fact that the phase 3 trial of idebenone in Duchenne MD remains open and that new sites are now participating. Santhera Pharmaceuticals
[title]
ALS Research Roundup November-December 2011
November 01, 2011
C9ORF72 mutation is most common cause of familial ALS, FTD Two independent research teams have identified a mutation in the gene for chromosome 9 open reading frame 72 (C9ORF72) as the most common
[title]
When the Thinking Parts of the Brain Go Awry in ALS
November 01, 2011
John Shearer and his wife Brenda learned in November 2010 that he has ALS. The couple, who lives in Woodstock, Ga., were told the disease would cause gradual weakening of John’s voluntary muscles,
[title]
Myasthenia Gravis Trials Now Open
October 27, 2011
Two clinical trials — one of an experimental medication and the other of a surgical procedure —  are available to people with myasthenia gravis (MG) who meet enrollment criteria. CK-2017357 being
[title]
‘Aberrant Astrocytes’ Kill Motor Neurons in Rats
October 26, 2011
A multinational team of scientists has identified a specific type of astrocyte that behaves abnormally, causing degeneration and death in motor neurons in rats with a disease resembling familial SOD1
[title]
CMT Genetics Study Seeks Participants
October 24, 2011
Researchers supported in part by MDA are seeking people with Charcot-Marie-Tooth disease (CMT) to participate in a study to identify genetic modifiers of the type 1A form of CMT (CMT1A) and determine
[title]
More Evidence for Astrocyte Involvement in ALS
October 20, 2011
An MDA-supported team of scientists has demonstrated in rats that nervous system support cells called astrocytes carrying an SOD1 mutation cause neighboring motor neurons to deteriorate and die. The
[title]
NIAMS Establishes MD Research Center
October 18, 2011
A Center for Research Translation of Systemic Exon Skipping in Muscular Dystrophy has been established by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of
[title]
Jerry Mendell's Research Team Receives Award
October 16, 2011
A team headed by neurologist Jerry Mendell, a longtime MDA research grantee and director of the MDA Clinic at Nationwide Children's Hospital in Columbus, Ohio, has received the prestigious Annals of
[title]
Dichlorphenamide Being Tested in Periodic Paralysis
October 14, 2011
A multicenter study of the drug dichlorphenamide in 140 adults with hyperkalemic or hypokalemic periodic paralysis is open at sites in California, Kansas, Massachusetts, Minnesota, Missouri, New York
[title]
Periodic Paralysis Research Mouse Developed
October 14, 2011
MDA grantee Stephen Cannon at the University of Texas Southwestern Medical Center in Dallas coordinated a study team that has developed a mouse model of one type of hypokalemic periodic paralysis,
[title]
A Potential Biomarker for SOD1 ALS
October 13, 2011
An MDA-supported team of scientists has identified specific changes that occur in the spinal cord prior to disease onset in people with familial (inherited) ALS related to mutations in the SOD1 gene
[title]
Online Familial ALS Registry Opens
October 06, 2011
A new registry has been launched for people with the familial (inherited) form of amyotrophic lateral sclerosis (ALS). The Web-based fALS Connect registry was developed by a research team from the
[title]
Systemic Antisense Injections Rescue Severe SMA Mice
October 04, 2011
Treatment of a mouse model of severe spinal muscular atrophy (SMA) with an antisense oligonucleotide results in greater and longer-lasting benefit when given systemically than when given only to the
[title]
Seeding the Field: Nurturing the Next Generation of MD Researchers
October 01, 2011
All MDA grants have the same basic goal: moving promising treatments through the “drug development pipeline,” from early discoveries in the lab, to clinical trials, to actual therapies that can be
[title]
Exon Skipping in DMD: What Is It and Whom Can It Help?
October 01, 2011
Exon skipping is a strategy currently being developed for Duchenne muscular dystrophy (although it may have application to other genetic diseases down the line) in which sections of genetic code are
[title]
Research Updates Fall 2011
October 01, 2011
Featured in this update: Families, experts meet at BMD Conference Three trials study blood-vessel-dilating drugs in BMD, DMD Results of daily, weekly prednisone treatment about the same in DMD
[title]
NeuRx Diaphragm Pacing System Approved for ALS
September 28, 2011
The U.S. Food and Drug Administration has approved the NeuRx Diaphragm Pacing System for treatment of hypoventilation (inadequate breathing) in amyotrophic lateral sclerosis (ALS). The DPS received
[title]
Research Briefs: Spinal Muscular Atrophy
September 27, 2011
Skeletal muscle damage reversed in SMA mice In addition to muscle damage caused by the loss of motor neurons in the spinal cord, skeletal muscle degeneration inspinal muscular atrophy (SMA) also
[title]
C9ORF72 Mutation Most Common Cause of Familial ALS, FTD, ALS-FTD
September 21, 2011
Two independent research teams have identified a mutation in the gene for chromosome 9 open reading frame 72 (C9ORF72) as the most common cause found to date of familialALS (amyotrophic lateral
[title]
Induced Stem Cells Require Cautious Approach
September 20, 2011
Stem cells have been much in the news lately, including for neuromuscular diseases. One extremely promising approach has been to create stem cells from the adult (differentiated) cells of humans or

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