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Research News

[title]
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
[title]
'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
[title]
Nationwide Children’s Podcast Explores the Congenital Muscular Dystrophies
October 15, 2012
  In a September 2012 podcast from Nationwide Children's Hospital in Columbus, Ohio, pediatric neurologist and MDA grantee Francesco Muntoni discusses recent advances in the understanding of
[title]
Interim Results Suggest Chaperone Drug Enhances Enzyme Treatment in Pompe Disease
October 12, 2012
  Biopharmaceutical company Amicus Therapeutics presented updated and encouraging results for its experimental Pompe disease (acid maltase deficiency) compound AT2220 this week at the 17th
[title]
Neural Stem Cell Trial in ALS ‘Very Successful’ So Far
October 12, 2012
Results from a completed phase 1 trial of neural stem cells in people with amyotrophic lateral sclerosis (ALS) show that the stem cells and the surgical method used to transplant them were safe and
[title]
DMD: Reformulated Utrophin Upregulator Looks Good in Healthy Volunteers
October 10, 2012
Note: Click on photo to expand. Normally, the dystrophin protein helps protein clusters in the muscle-fiber membrane anchor to the inside of the muscle fiber. Utrophin can probably substitute for
[title]
DMD Imaging Study Open at Three Sites
October 08, 2012
A multicenter study of the use of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) to measure the progression of Duchenne muscular dystrophy (DMD) is open at sites in
[title]
CMD, LGMD: 'Conditional Knockout' Mouse Will Help Researchers Study Fukutin Deficiency
October 08, 2012
By disrupting the fukutin gene at different time points in mice embryo, researchers have been able to develop research models of two types of human muscle disease: Fukuyama congenital muscular
[title]
Sizing Up Early Enzyme Replacement for Pompe Disease
October 04, 2012
A study of 11 children with infantile-onset Pompe disease (acid maltase deficiency) who started enzyme replacement therapy by the time they were 6 months old has shown the treatment can markedly
[title]
ALS, SMA Share a Biochemical Pathway
October 04, 2012
New evidence links the motor neuron diseases ALS (amyotrophic lateral sclerosis) and spinal muscular atrophy (SMA), an international team of scientists has reported. The researchers say the findings
[title]
DMD: Eteplirsen Results Very Encouraging at 48 Weeks
October 03, 2012
The biopharmaceutical company Sarepta Therapeutics announced today that its experimental exon-skipping compound, eteplirsen, resulted in an increase in dystrophin and  "significant clinical benefit"
[title]
A Closer Look at the 48-Week Eteplirsen Trial Results
October 03, 2012
The experimental exon-skipping drug eteplirsen, in development by Sarepta Therapeutics to treat approximately 13 percent of boys with Duchenne muscular dystrophy (DMD), has been found to have
[title]
Study of Tadalafil in BMD Revised, Reopened
October 02, 2012
An MDA-supported, short-term trial of the vasodilating drug tadalafil (Cialis) in teens and men with Becker muscular dystrophy (BMD) has undergone some minor restructuring and is now open to 12
[title]
SMA: Repligen Launches Phase 1b Trial of RG3039
October 02, 2012
The experimental drug RG3039, being developed by Repligen Corp. of Waltham, Mass., as a potential treatment for spinal muscular atrophy (SMA), has moved into its next phase of testing. RG3039
[title]
Mitochondrial Disease Research: A Talk with Michio Hirano
October 01, 2012
On a Thursday afternoon in July 2012, Michio Hirano, a professor of neurology, was in his office at Columbia University Medical Center, high above Manhattan’s upper west side. Longtime MDA grantee
[title]
Putting Pieces Together: ALS Research Grants
October 01, 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]
Update: National ALS Registry
October 01, 2012
In the two years since it was launched on Oct. 19, 2010, the National ALS Registry has grown to include registrants representing all 50 states and the District of Columbia, and developed into a
[title]
Research Updates Fall 2012
October 01, 2012
Note: The research news featured in Research Updates is a compilation of Quest News Online articles posted between issues of the print magazine. (Note: To receive a monthly email summary of research
[title]
MDA Launches Clinical Neuromuscular Disease Registry
October 01, 2012
In 2003, the average life expectancy for a person with the genetic lung disease cystic fibrosis was 33 years. But at some cystic fibrosis medical centers, life expectancy was more than 47 years. The
[title]
ALS-FTD Research Briefs: P62 Gene’s Role and Screening Tool for ALS-FTD
September 25, 2012
The most visible symptom in amyotrophic lateral sclerosis (ALS) is progressive weakness and loss of muscle control due to the loss of nerve cells called motor neurons. But approximately half of all
[title]
Study Recruiting People with LGMD2B or Miyoshi Myopathy
September 25, 2012
A new, multinational study of type 2B limb-girdle muscular dystrophy (LGMD2B) and Miyoshi myopathy— both of which result from mutations in the gene for the muscle protein dysferlin and are known as
[title]
New Phase 2b Trial of Tirasemtiv (CK-2017357) in ALS
September 19, 2012
South San Francisco biotechnology company Cytokinetics announced Sept. 10, 2012, that it plans to conduct a new phase 2b clinical trial of its oral drug tirasemtiv (formerly CK-2017357) in people
[title]
Update: Experimental Drug Seems to Slow Respiratory Decline in DMD
September 19, 2012
Santhera Pharmaceuticals presented clinical data Oct. 21, 2011, indicating that the experimental drug idebenone (brand name Catena) modestly slows the decline in some measurements of respiratory
[title]
MDA Muscle Symposium: Newborn Screening in DMD
September 19, 2012
Newborn screening for Duchenne muscular dystrophy (DMD) was the topic of discussion and debate at MDA's Muscle Symposium on Sept. 11-12, 2012.   Newborn screening is the widespread practice of
[title]
NINDS Launches Clinical Trial Network, SMA Biomarkers Study
September 18, 2012
The National Institute of Neurological Disorders and Stroke (NINDS) has launched a study to look at natural history (general disease course) and search for disease indicators called biomarkers in

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