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Research News

[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]
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]
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
[title]
PTC Remains Committed to Ataluren for Nonsense-Mutation DMD/BMD
September 15, 2011
Update (July 25, 2012): This story was updated to reflect the fact that PTC has announced its intention to begin an open-label trial of ataluren in DMD/BMD for former ataluren trial participants in
[title]
ALS Research Briefs: FUS-TDP43, SOD1 Mutation and Webinars
September 09, 2011
FUS and TDP43 work together in fruit flies In a fruit fly research model of inherited ALS, human FUS and TDP43 proteins work together on some processes necessary for the long-term survival of muscle-
[title]
Familial, Sporadic ALS Linked via Astrocytes and SOD1
August 29, 2011
Astrocytes— cells that normally support and protect nerve cells — have been found to cause motor neuron degeneration in newly created human cellular models of both inherited and noninherited ALS (
[title]
Sigma R1 Gene Linked to Juvenile ALS
August 25, 2011
A mutation in the gene for a protein called sigma intracellular receptor 1 (sigma R1) has been identified as a cause of familial juvenile ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease
[title]
Ubiquilin 2 Abnormalities Connected to ALS
August 22, 2011
 A group of researchers led by Teepu Siddique at Northwestern University Feinberg School of Medicine in Chicago has identified abnormalities in the ubiquilin 2 gene and protein as important
[title]
MDA Awards More Than $2.5 Million in Grants to Stop ALS
August 22, 2011
MDA has awarded nine grants totaling more than $2.5 million to fund research projects focused on uncovering the causes of, and developing therapies for, amyotrophic lateral sclerosis (ALS, or Lou
[title]
MDA Awards $13.7 Million in Research Grants
August 22, 2011
The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of
[title]
Global CMD1C/LGMD2I Registry Opens
August 19, 2011
A new registry has been launched for people with conditions caused by mutations in the gene for fukutin-related protein (FKRP). This includes people with the type 2I form of limb-girdle muscular
[title]
DMD: Phase 2 Exon-Skipping Trial Launched
August 15, 2011
Updated: View MDA's video about the launch of the eteplirsen trial on YouTube. Biotechnology company AVI BioPharma announced Monday, Aug. 15, 2011, that its phase 2 exon-skipping trial of eteplirsen

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