Muscular Dystrophy News and Research

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The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

Positive results from pivotal clinical trial of Trophos’ olesoxime in SMA patients to be presented at AAN 2014

Trophos and AFM-Telethon today announce that data from the pivotal clinical trial of Trophos’ lead product candidate olesoxime in spinal muscular atrophy (SMA) will be presented during the 66th American Academy of Neurology annual meeting to be held in Philadelphia, PA, USA, from April 26 to May 3 2014.

29 Apr 2014

Researchers use RNA sequencing to look at early- and late-stage development of the heart

Most people think the development of the heart only happens in the womb, however the days and weeks following birth are full of cellular changes that play a role in the structure and function of the heart. Using mouse models, researchers at Baylor College of Medicine have now been able to categorize the alternative splicing (the process in which genes code proteins, determining their role) that takes place during these changes and what mechanisms they affect.

26 Apr 2014

Research findings can impact lives of people with autism today

A new study from investigators with the Autism Genome Project, the world's largest research project on identifying genes associated with risk for autism, has found that the comprehensive use of copy number variant (CNV) genetic testing offers an important tool in individualized diagnosis and treatment of autism.

25 Apr 2014

Race to Yes campaign lauds Sarepta's plans to seek FDA approval for Duchenne treatment

The Race to Yes campaign today lauded drug maker Sarepta on its plans to move forward immediately to seek FDA approval of the first drug to successfully treat Duchenne muscular dystrophy, the world's leading genetic killer of children.

22 Apr 2014

Sarepta Therapeutics plans to submit eteplirsen NDA for treatment of Duchenne muscular dystrophy

Sarepta Therapeutics, Inc., a developer of innovative RNA-based therapeutics, today announced it plans to submit a New Drug Application (NDA) to the U.S. Food and Drug Administration by the end of 2014 for the approval of eteplirsen for the treatment of Duchenne muscular dystrophy (DMD).

21 Apr 2014

U.Va. researchers named recipients of 2013 Hartwell Individual Biomedical Research Awards

University of Virginia neurologist Dr. Erin Pennock Foff, biologist Sarah Kucenas and biomedical engineer Shayn Peirce-Cotter have been named recipients of 2013 Hartwell Individual Biomedical Research Awards to benefit children of the United States. Each scientist will receive $100,000 in direct annual research support from The Hartwell Foundation for three years.

19 Apr 2014

New mouse study indicates that mutant protein in muscle cells is responsible for SBMA

Sometimes known as Kennedy's disease, spinal and bulbar muscular atrophy (SBMA) is a rare inherited neuromuscular disorder characterized by slowly progressive muscle weakness and atrophy.

17 Apr 2014

Research suggests that person can slow aging process by exercising regularly

New research by Canadian sports medicine physician Mark Tarnopolsky, MD, PhD, suggests that a person can slow the speed at which they age by exercising regularly. Dr. Tarnopolsky presented his research titled, "Exercise as a Countermeasure for Aging: From Mice to Humans" today at the 23rd Annual Meeting of the American Medical Society for Sports Medicine (AMSSM). Dr. Tarnopolsky discussed how regular exercise not only improves the quality of life but can also extend a person's lifespan by up to five years.

8 Apr 2014

Thomson Reuters, Children's Tumor Foundation partner to create neurofibromatosis pathway maps

The Intellectual Property & Science business of Thomson Reuters, the world's leading provider of intelligent information for businesses and professionals, today announced an expansion of its partnership with the Children's Tumor Foundation to create unique neurofibromatosis (NF) pathway maps aimed at significantly increasing the understanding of the disease and its underlying mechanisms.

4 Apr 2014

Jain Foundation's dysferlinopathy clinical study exceeds original goal of 150 patients

The Jain Foundation is delighted to announce that 193 patients have been recruited into the Clinical Outcome Study for Dysferlinopathy (COS), exceeding the original goal of 150 patients.

2 Apr 2014

Device to improve blood flow implanted in muscular dystrophy patient

"Today, we're going to make history," said 18-year-old Eric Ramos on the day UT Southwestern Medical Center doctors operated on his ailing heart.

29 Mar 2014

New way to make large concentrations of skeletal muscle cells from human stem cells

As stem cells continue their gradual transition from the lab to the clinic, a research group at the University of Wisconsin-Madison has discovered a new way to make large concentrations of skeletal muscle cells and muscle progenitors from human stem cells.

24 Mar 2014

Findings support development of cysteine protease inhibitors as new drug target for AD

A team of scientists from the University of California, San Diego School of Medicine, the Medical University of South Carolina and San Diego-based American Life Science Pharmaceuticals, Inc., report that cathepsin B gene knockout or its reduction by an enzyme inhibitor blocks creation of key neurotoxic pGlu-Aβ peptides linked to Alzheimer's disease (AD). Moreover, the candidate inhibitor drug has been shown to be safe in humans.

18 Mar 2014

Patients with congenital disorders are urged to register with CMDIR to advance clinical trials

If you are affected by Malignant Hyperthermia, Congenital Muscular Dystrophies or Congenital Myopathy Subtypes, the Malignant Hyperthermia Association of the United States and the Cure Congenital Muscle Disease organization are asking for your help to enable research and clinical trials by registering with the Congenital Muscle Disease International Registry (CMDIR).

13 Mar 2014

Trophos' olesoxime shows beneficial effect on maintaining motor function in SMA patients

Trophos today announces that top-line results from a pivotal clinical trial of its lead product candidate olesoxime in spinal muscular atrophy (SMA) show a beneficial effect on the maintenance of motor function in SMA patients. If approved, olesoxime could be the first treatment specifically developed for SMA patients.

10 Mar 2014

Takeda works with UCL to drive research into tackling muscle disorders

Japanese pharmaceutical company Takeda will work with University College London (UCL) to drive research into tackling muscle disorders, in particular muscular dystrophy.

10 Mar 2014

High-carbohydrate, high-calorie diet could delay progression of Amyotrophic Lateral Sclerosis

A high-carbohydrate, high-calorie diet could delay the progression of Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease or Lou Gehrig’s disease, according to a phase 2 study published in The Lancet.

3 Mar 2014

Sarepta Therapeutics reports non-GAAP net loss of $29.1 million for Q4 2013

Sarepta Therapeutics, Inc., a developer of innovative RNA-based therapeutics, today reported financial results for the three months and year ended December 31, 2013, and provided an update of recent corporate developments.

27 Feb 2014

Prothelia and University of Nevada, Reno enter into agreements with Alexion for development of Laminin-111

Prothelia Incorporated (Prothelia) and University of Nevada, Reno announce that they have entered into strategic agreements with Alexion for the development of Laminin-111, a patented experimental protein replacement therapy for merosin-deficient congenital muscular dystrophy (MDC1A), a life-threatening, ultra-rare disease caused by a genetic deficiency of the Laminin-211 protein.

26 Feb 2014

Isis Pharmaceuticals provides update on ISIS-SMNRx Phase 2 study in infants with SMA

Isis Pharmaceuticals, Inc. today provided an update on its ongoing open label, multiple dose Phase 2 study of ISIS-SMNRx in infants with spinal muscular atrophy (SMA).

25 Feb 2014