Myopathies News and Research

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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

UTHealth scientists identify inhibitory switch to prevent peripheral vascular disease

Millions of people in the United States have a circulatory problem of the legs called peripheral vascular disease. It can be painful and may even require surgery in serious cases. This disease can lead to severe skeletal muscle wasting and, in turn, limb amputation.

25 Jul 2014

PTC Therapeutics initiates reimbursed expanded access program for Translarna

PTC Therapeutics, Inc. today announced the initiation of a reimbursed expanded access program (EAP). PTC's EAP program is intended to make Translarna (ataluren) available to patients before commercial availability in certain countries.

9 Jul 2014

EMA's CHMP gives positive opinion for PTC Therapeutics' Translarna

PTC Therapeutics, Inc. today announced that following its request for re-examination, the Committee for Medicinal Products for Human Use of the European Medicines Agency has adopted a positive opinion regarding the company's application for a conditional marketing authorization of Translarna (ataluren) for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD) in ambulatory patients aged five years and older.

23 May 2014

Researcher identifies ''conductor'' in development of muscle tissue

A team led by Jean-Fran-ois C-t-, researcher at the IRCM, identified a ''conductor'' in the development of muscle tissue. The discovery, published online yesterday by the scientific journal Proceedings of the National Academy of Sciences (PNAS), could have an important impact on the treatment of muscular diseases such as myopathies and muscular dystrophies.

26 Feb 2014

Study: Genetic mutations in titin gene can cause skeletal muscle disease

A University of Arizona doctoral candidate has shown for the first time that genetic mutations in the titin gene can cause skeletal muscle myopathy, a disease in which muscle fibers do not function properly, resulting in muscle weakness.

29 Jan 2014

Researchers develop valid humanized model for facioscapulohumeral muscular dystrophy

Researchers at the Kennedy Krieger Institute recently announced study findings showing the successful development of a humanized preclinical model for facioscapulohumeral muscular dystrophy (FSHD), providing scientists with a much needed tool to accelerate novel therapeutic research and development.

28 Jan 2014

Trophos completes efficacy study of olesoxime in patients with Spinal Muscular Atrophy

Trophos SA, a clinical stage pharmaceutical company developing innovative therapeutics from discovery to clinical validation for indications with under-served needs in neurology and cardiology, has completed its efficacy study of olesoxime in the rare neurodegenerative condition Spinal Muscular Atrophy.

5 Nov 2013