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Research News

[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
Update (Sept. 10, 2012): Information about the potential for serious side effects with temsirolimus and rapamycin was added to this article. Mutations in the lamin A/C gene, which codes for the
[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
[title]
Exon-Skipping Trial Results Are a 'Major Advance' in DMD Treatment
July 24, 2012
Editor's note (July 24, 2012): For a more in-depth discussion of the exon-skipping trial results, see A Closer Look: Extended Eteplirsen Treatment Benefits Walking in DMD. The biopharmaceutical
[title]
Research Briefs: LGMD, Myofibrillar Myopathy
July 18, 2012
Update (Aug. 8, 2012):This story was updated to reflect the availability of a podcast on the dysferlin gene transfer study. Zebrafish research models mimic myofibrillar myopathy Scientists in
[title]
Disruption of ‘Transporter’ Protein May Underlie Neurodegeneration
July 15, 2012
Disruption of a “transporter” protein called MCT1 (also SL16A1) leads to the degeneration of muscle-controlling nerve cells (motor neurons) in animal and cell culture models of amyotrophic lateral
[title]
MMD Briefs: New Drug Development, Perceptions of Modafinil
July 10, 2012
Type 1 myotonic dystrophy (MMD1, or DM1) and type 2 myotonic dystrophy (MMD2, or DM2) are complex, multisystem disorders caused by similar genetic flaws on chromosome 19 (MMD1) and chromosome 3 (MMD2
[title]
Study Finds ‘Less Clear’ Distinction Between Sporadic and Familial ALS
July 09, 2012
In a more than 20-year study of people with amyotrophic lateral sclerosis (ALS), a research team found that 11 percent of people with a diagnosis of sporadic ALS had mutations in genes associated

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