Myopathies News and Research

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Study provides vital information to develop successful PI5P4K inhibitors for p53-mutant cancers

One major hallmark of cancer cells is their ability to adapt to stressful conditions such as nutrient deprivation. Rapidly growing tumor cells must compete for the ever-diminishing supply of nutrients in the surrounding environment to survive and proliferate. Targeting these adaptive mechanisms represents a promising approach for cancer therapeutics.

3 May 2018

Removal of single mitochondrial protein leads to severe inflammation

The link between mitochondria and inflammation is still unclear. But it is known is that, for example, the accumulation of defective mitochondria, which should have been removed, causes inflammation.

10 Apr 2018

New, sensitive screening test may allow clinicians to accurately detect Pompe disease

Researchers identified a new, more sensitive screening test to recognize Pompe disease, a metabolic disorder affecting cellular processing of glycogen in numerous tissues of the body.

2 Jan 2018

New research offers crucial step towards understanding cause of myopathy

Pioneering research using the tropical zebrafish could provide new insights into the genetic basis of myopathy, a type of human muscle disease.

6 Jul 2017

Researchers discover small protein essential for formation of skeletal muscle

UT Southwestern Medical Center researchers discovered a small protein named Myomixer essential for the formation of skeletal muscle – findings that could eventually help treat genetic diseases such as muscular dystrophy and other myopathies.

7 Apr 2017

Some WADA-banned substances may have potential medical applications

As the world awaits the start of the 2016 Summer Olympics, doping in athletes remains a hot topic.

4 Aug 2016

Key gene controls ability of adult stem cells to regenerate muscle after injury, study finds

A key gene enables the repair of injured muscle throughout life. This is the finding of a study in mice led by researchers at NYU Langone Medical Center and the University of Colorado at Boulder, and published online July 21 in Cell Reports.

21 Jul 2016

Researchers investigate biochemical, physiological characteristics of facial and extraocular muscles

In a new study, a research team at Basel University Hospital in Switzerland investigates the biochemical and physiological characteristics of orbicularis oculi, a group of facial muscles that control the eyelids and are selectively spared or involved in different neuromuscular disorders. What they found also helps to explain why another set of muscles—the extraocular muscles that control the movement of the eye—are not affected by Duchenne muscular dystrophy, congenital muscular dystrophy, and aging.

12 Apr 2016

Berlin researchers identify defects in myotubular myopathy

Tiny deviations in the body's cells can sometimes have severe consequences. Researchers from Berlin have discovered why cells from patients suffering from the rare muscular disease myotubular myopathy cannot function properly.

21 Jan 2016

First patient dosed in long term-safety extension study of Resolaris for adult patients with FSHD

aTyr Pharma, Inc., a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address severe rare diseases, today announced that the first patient has been dosed in a newly initiated long term-safety extension study of Resolaris for adult patients with facioscapulohumeral muscular dystrophy (FSHD), a rare and severe genetic myopathy for which there are currently no approved treatments.

10 Sep 2015

PTC Therapeutics announces recipients of STRIVE Awards

PTC Therapeutics, Inc. is pleased to announce five recipients of its first-ever global awards program, the STRIVE Awards (Strategies to Realize Innovation, Vision and Empowerment), designed to aid nonprofit organizations that are committed to serving the Duchenne muscular dystrophy (DMD) community.

4 Sep 2015

Necrotising autoimmune myopathy requires early, aggressive treatment

Researchers call for the prompt recognition of necrotising autoimmune myopathy and aggressive early treatment with a combination of intravenous immune globulin, corticosteroids and a steroid-sparing agent for 3 months.

27 Jul 2015

aTyr's Resolaris granted FDA Orphan Drug Designation for treatment of FSHD

aTyr Pharma, a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address rare diseases, announced today that Resolaris has been granted Orphan Drug Designation by the U.S. Food and Drug Administration for the treatment of facioscapulohumeral muscular dystrophy (FSHD).

27 Apr 2015

TGen scientists discover the likely cause of rare type of muscle weakness in six children

Scientists at the Translational Genomics Research Institute (TGen), using state-of-the-art genetic technology, have discovered the likely cause of a child's rare type of severe muscle weakness.

10 Apr 2015

Researchers review ten years of scientific studies on mitochondrial toxicity in pregnant women

Researchers from the Hospital Clinic of Barcelona (Spain) have reviewed ten years' worth of scientific studies on mitochondrial toxicity in pregnant women. Exposure to toxic agents such as viruses, certain drugs, pesticides, alcohol and tobacco cause mitochondrial diseases about which very little is known, and which are transmitted from the mother to the foetus.

20 Feb 2015

EC grants orphan drug designation to aTyr Pharma's Resolaris for treatment of FSHD

aTyr Pharma, Inc., a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address rare diseases, announced today the European Commission (EC) has granted orphan drug designation to Resolaris for the treatment of facioscapulohumeral muscular dystrophy (FSHD).

19 Feb 2015

Bern researchers develop active substance for treating Duchenne muscular dystrophy

Duchenne muscular dystrophy is a congenital disease which causes muscle degeneration and eventual death in teenagers. Recently, researchers from Bern developed an active substance, which they together with an international team tested successfully.

3 Feb 2015

PTC begins rolling NDA submission for Translarna to treat nmDMD

PTC Therapeutics, Inc. today announced that it has commenced a rolling submission of a New Drug Application to the United States Food and Drug Administration for Translarna™ for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD).

23 Dec 2014

Researchers restore missing repair protein in skeletal muscle of patients with muscular dystrophy

Advances in the treatment of muscular dystrophy: For the first time, a research team has succeeded in restoring a missing repair protein in skeletal muscle of patients with muscular dystrophy.

21 Aug 2014

Idera collaborates with TMA to advance new potential treatment approach for myositis

Idera Pharmaceuticals, Inc., a clinical stage biopharmaceutical company developing nucleic acid therapeutics for patients with cancer and rare diseases, and The Myositis Association (TMA), the only nonprofit organization dedicated to solely serving all patients with inflammatory myopathies, today announced a collaboration to advance a new potential treatment approach for polymyositis and dermatomyositis known as Toll-like receptor (TLR) antagonism.

7 Aug 2014