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Research News

[title]
DMD Briefs: Stopping Inflammation on Earth and in Space
September 13, 2012
Inflammation— the immune system's first line of defense in tissue that's been damaged by injury or infection — is a good example of a process that's a good thing up to a point and under certain
[title]
IGF1 Shows Benefit in SBMA Mice
September 09, 2012
Mice with a disease resembling spinal-bulbar muscular atrophy (SBMA, or Kennedy disease) that were treated with a compound based on insulin-like growth factor 1 (IGF1) had better motor function,
[title]
BMD Conference Videos Cover Health Care, Research and Daily Living
September 07, 2012
Videos of the entire MDA-sponsored Becker Muscular Dystrophy Conference, held in Chicago on Aug. 11, 2012, are now archived on the Conference video page. Each presentation covers a different aspect
[title]
ALS Risk Elevated in Some Retired NFL Players
September 05, 2012
New data shows that — while overall risk of death among National Football League (NFL) players is less than that of men in the general U.S. population — the risk of death related to amyotrophic
[title]
ALS and SMA: Less EPHA4 Means More Motor Neurons Survive
September 02, 2012
Decreased activity of the EPHA4 receptor, which is encoded by the EPHA4 gene, increases life span in people with amyotrophic lateral sclerosis (ALS), a team of scientists has reported. The receptor,
[title]
Sarepta Issues ‘Open Letter’ Explaining Development of Eteplirsen for DMD
August 31, 2012
In July 2012, Sarepta Therapeutics announced encouraging interim results for its phase 2b trial of eteplirsen, an experimental exon-skipping drug in development to treat Duchenne muscular dystrophy (
[title]
Chemical 'Signature' May Be Used to Track ALS
August 28, 2012
A "pro-inflammatory" chemical signature displayed by monocytes (a type of white blood cell) appears to signal the presence of amyotrophic lateral sclerosis (ALS) even before symptoms begin, a team of
[title]
MDA Commits $10.7 Million to Neuromuscular Disease Research
August 20, 2012
The Muscular Dystrophy Association has awarded 33 new grants totaling $10,684,481 to fund research projects focused on uncovering the causes of, and developing therapies for, neuromuscular disease.
[title]
ALS: New MDA Grants Focus on Multisystem Aspects of the Disease
August 19, 2012
Three new MDA grants totaling $891,156 have been awarded to research projects aimed at uncovering some of the many complex processes that underlie ALS. "Scientists are digging ever deeper into the
[title]
Mitochondrial Disease Registry Seeks Participants
August 15, 2012
If you or someone in your family has or is suspected of having a mitochondrial myopathy or other disorder of the mitochondria, the North American Mitochondrial Disease Consortium (NAMDC) would like
[title]
DMD Research Briefs: Exon Skipping Advances in Trials, Lab
August 15, 2012
Exon skipping is an experimental therapeutic strategy in which regions — exons— of a gene are targeted and blocked ("skipped") by laboratory-designed molecules. The goal is that the remaining genetic
[title]
MDA Funds Efficacy Trial of Diaphragm Pacing System in ALS
August 13, 2012
The Muscular Dystrophy Association has committed $750,000 to help support a phase 2 clinical trial assessing the ability of the NeuRx Diaphragm Pacing System (DPS) to improve respiratory function and
[title]
DUX4 Protein Not Unique to FSHD-Affected Muscles
August 09, 2012
Researchers supported in part by MDA have recently found evidence that production of the full-length version of a protein known as DUX4— previously associated exclusively with facioscapulohumeral
[title]
'Repeats' in Normal C9ORF72 Gene Don't Affect ALS, FTD
August 09, 2012
Humans carry two copies of the C9ORF72 gene, each containing a stretch of DNA in which a sequence of DNA building blocks coded GGGGCC is repeated a number of times. (Each six-letter sequence is
[title]
Phase 3 Trial of Ceftriaxone in ALS Stopped
August 08, 2012
On Aug. 8, 2012, the National Institute of Neurological Disorders and Stroke (NINDS) reported that it has stopped a phase 3 clinical trial of the antibiotic ceftriaxone in amyotrophic lateral
[title]
New Gene Therapy Approach for FA, Other Diseases
August 07, 2012
Human cells treated with engineered transcription activation-like effector (TALE) proteins produced two to three times more frataxin protein than did control cells, a team of researchers has reported
[title]
Doctors Surprised By Which Symptoms Matter Most to Adults with MMD1, FSHD
August 05, 2012
Traditionally, outcome measures— the observations investigators make in a clinical trial to decide whether one treatment is better than another or better than a placebo — are determined by factors in
[title]
Survey Examines Newborn Screening for Neuromuscular Disease
August 02, 2012
MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth, with an eye toward the future possibility
[title]
'Gapmer Antisense' Stops Disease in MMD1 Mice
August 02, 2012
An experimental treatment for type 1 myotonic muscular dystrophy (MMD1, or DM1) has corrected several aspects of the disease in an MMD1 mouse model. A year after treatment with an experimental
[title]
MDA Launches 'Bridge-to-Industry' Training Program
July 31, 2012
MDA launched its innovative Bridge-to-Industry (B2I) program with a $180,000 grant over three years to postdoctoral fellow Archi Joardar at The University of Arizona in Tucson, to develop two
[title]
PTC Update on the Development of Ataluren in Nonsense-Mutation DMD/BMD
July 31, 2012
New Jersey biopharmaceutical company PTC Therapeutics recently declared its intention to do whatever it takes — including an additional clinical trial — to seek approval for ataluren (formerly PTC124
[title]
EDMD, LGMD1B: Two More Leads for Treating Cardiomyopathy
July 29, 2012
Mutations in the lamin A/C gene, which codes for the lamin A and lamin C proteins, underlie one form of Emery-Dreifuss muscular dystrophy (EDMD) and the type 1B form of limb-girdle muscular dystrophy
[title]
Another Gene Linked to Familial ALS
July 27, 2012
A genetic mutation in the gene for a protein called profilin 1 (PFN1) has been identified as a cause of familial amyotrophic lateral sclerosis (ALS), an MDA-supported team of researchers has reported
[title]
Encouraging Preclinical Results in Membrane Sealant Drug for DMD
July 25, 2012
Phrixus Pharmaceuticals in Ann Arbor, Mich., reported July 19, 2012, that its experimental drug Carmeseal demonstrated a beneficial effect on the diaphragm (the primary breathing muscle) in mice with
[title]
A Closer Look: Extended Eteplirsen Treatment Benefits Walking in DMD
July 24, 2012
Editor's note (July 30, 2012): This story was revised to include information about the specific mutations being targeted by eteplirsen. Eteplirsen, an experimental drug designed to cause skipping of

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