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Research News

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ALS Briefs from the 2012 ALS/MND Symposium
December 18, 2012
The 23rd International Symposium on ALS/MND (motor neuron disease), held in Chicago Dec. 5-7, 2012, brought together more than 900 researchers, clinicians and other health care professionals from 30
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Second Mouse Model of Periodic Paralysis Developed
December 16, 2012
Scientists supported in part by MDA have developed a second type of research mouse with a disorder mimicking hypokalemic periodic paralysis, a genetic disorder in which recurrent attacks of weakness
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ALS Briefs: Clinical Trial Updates at the 2012 ALS/MND Symposium
December 13, 2012
The 23rd International Symposium on ALS/MND (motor neuron disease), held in Chicago Dec. 5-7, 2012, brought together more than 900 researchers, clinicians and other health care professionals from 30
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Tirasemtiv Shows Promise in MG
December 12, 2012
The experimental drug tirasemtiv has shown promise in a phase 2a clinical trial in 32 people with myasthenia gravis (MG). Improvements in general and respiratory muscle function occurred in response
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DMD: Eteplirsen Results Still Strong at 62 Weeks
December 07, 2012
Eteplirsen, an exon-skipping drug in development by Sarepta Therapeutics to treat Duchenne muscular dystrophy (DMD) caused by specific mutations in the dystrophin gene, continues to show benefit at
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What’s Next for Eteplirsen? Sarepta Discusses FDA Approval and Future Trials
December 07, 2012
In both October and December 2012, Sarepta Therapeutics announced very encouraging results from a 12-person phase 2b trial of eteplirsen, an exon-skipping compound that is a potential treatment for
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European Agency to Consider Conditional Approval of Ataluren for DMD
December 05, 2012
Update (Dec. 6, 2012): This story has been updated with additional information about next steps for ataluren. New Jersey biopharmaceutical company PTC Therapeutics has announced that the European
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ALS Research Briefs: Protein Biomarker and Stem Cells
December 04, 2012
Protein test predicts ALS progression It’s known that levels of a protein called phosphorylated neurofilament heavy subunit (PNF-H) are increased in the spinal fluid of people with amyotrophic
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DMD: Sarepta Expands Exon-Skipping Program
December 04, 2012
Biopharmaceutical company Sarepta Therapeutics has announced it will expand the focus of its exon-skipping program for Duchenne muscular dystrophy (DMD) by developing compounds that target exons 45,
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Tadalafil Increases Muscle Blood Flow in Becker MD
November 28, 2012
The drug tadalafil (Cialis, Adcirca), which dilates blood vessels and is approved to treat erectile dysfunction and pulmonary hypertension, has been found to improve blood flow to exercising forearm
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WNT7a Injections Restore Strength in DMD Mice
November 26, 2012
Update (Dec. 20, 2012):This story has been updated to reflect the availability of a 12-minute podcast with researcher Michael Rudnicki, in which Rudnicki discusses the advantages and disadvantages of
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Regulatory Cells Associated with Speed of ALS Progression
November 25, 2012
Immune system cells known as regulatory T cells— T-regs for short — have been found to play a protective role in mice with a disorder that resembles human amyotrophic lateral sclerosis (ALS). They
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Competition Solves Genetic Mystery for Boy with CNM
November 19, 2012
Update (Dec. 4, 2012):This story was updated to reflect that the 13 previously identified genes that were tested as potentially associated with Adam Foye's disease were genes for various disorders
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Study Shows Increased Life Span in DMD in Recent Decades
November 18, 2012
Findings from a study of 516 Italian boys show a significant improvement over the last six decades in survival time in Duchenne muscular dystrophy (DMD). This modified natural history (general
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Experimental Drug Being Tested in Mitochondrial and Metabolic Disorders, FA
November 15, 2012
Update (Feb. 13, 2013):In February 2013, study coordinator Lynne Wolfe at the National Institutes of Health said the NIH study of EPI-743 in metabolic and mitochondrial disordersis seeking children
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Trial of Antisense Drug Opens for Children with SMA
November 15, 2012
A phase 1b/2a trial to test the safety and tolerability of multiple doses of the experimental drug ISIS-SMNRx in children with spinal muscular atrophy (SMA) is now open at sites in New York and Salt
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ALS Briefs: Serotonergic Neurons and Counteracting Problematic Proteins
November 13, 2012
Nerve cells called serotonergic neurons degenerate in amyotrophic lateral sclerosis (ALS) and may influence the ALS disease process, an international research team has reported. In particular, the
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Webinar: ALS and the National Football League
November 11, 2012
A webinar (Web-based seminar) about neurodegenerative causes of death, including amyotrophic lateral sclerosis (ALS), in retired National Football League (NFL) football players is scheduled for 1 p.m
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Scientists Find Cause of Type 2 FSHD
November 11, 2012
Update (Nov. 14, 2012): This story has been updated to reflect information about genetic testing. Scientists funded in part by MDA have found the cause of type 2facioscapulohumeral muscular
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ALS: Phase 2 Clinical Trial for NP001 Shows Possible Benefit
November 04, 2012
Results from a completed phase 2 trial of the experimental therapy NP001 in people with amyotrophic lateral sclerosis (ALS) show that in some trial participants, the drug appeared to be effective at
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Drisapersen Appears Safe in Non-Walking Boys with DMD
November 02, 2012
The multinational pharmaceutical company GlaxoSmithKline (GSK) has announced promising results for its phase 1 trial of the exon-skipping drug drisapersen in boys with Duchenne muscular dystrophy (
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DMD: Prosensa, GSK Expand Exon-Skipping Program
October 28, 2012
Update (Feb. 1, 2013): Dutch biopharmaceutical company Prosensa announced Jan. 29 that it has received orphan drug status in the United States and the European Union for compounds in development for
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ALS: SOD1 Protein Can Cause Trouble Even When It's 'Normal'
October 25, 2012
It's been known since the early 1990s that mutations in the superoxide dismutase-1 (SOD1) gene can result in the production of any number of varieties of improperly folded (misfolded) SOD1 protein,
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SMA: Participants Sought for Study About Recreational Activities
October 25, 2012
Investigators at Northwestern University in Chicago are seeking people with spinal muscular atrophy (SMA), ages 2 to 21, to participate in a study about preferences and involvement in recreational
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'Guided Missile' Strategy for MG Shows Promise in Mice
October 25, 2012
Researchers funded in part by MDA say a gene-based therapy designed to treat myasthenia gravis (MG) has shown promise in mice with an MG-like disease. The research team was led by Dan Drachman, a

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