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.

New gene therapy approach to treating DMD reduces symptoms, extends life span in mouse model

A gene therapy approach to treating the progressive muscle wasting disorder Duchenne muscular dystrophy (DMD) that does not replace the mutated DMD gene but instead delivers the gene for ITGA7, a protein in skeletal muscle, led to reduced symptoms and significantly extended life span in a mouse model of severe DMD. Over-expression of ITGA7 did not elicit an immune reaction, further supporting its potential as a novel treatment for DMD, according to a new study published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

30 Sep 2015

Research highlights potential new treatment strategy for degenerative diseases

St. Jude Children's Research Hospital scientists have discovered evidence of a mechanism at the heart of amyotrophic lateral sclerosis (ALS) and related degenerative diseases. The research appears in today's edition of the journal Cell and highlights a possible new treatment strategy for the devastating disorders.

25 Sep 2015

UCSF researchers successfully separate human muscle stem cells

UC San Francisco researchers have successfully isolated human muscle stem cells and shown that the cells could robustly replicate and repair damaged muscles when grafted onto an injured site. The laboratory finding paves the way for potential treatments for patients with severe muscle injury, paralysis or genetic diseases such as muscular dystrophy.

23 Sep 2015

Benitec Biopharma initiates new site for ongoing Phase 1/2a TT-034 trial for hepatitis C

Benitec Biopharma Limited, a clinical-stage biotechnology company developing innovative therapeutics based on its gene-silencing technology, DNA-directed RNA interference (ddRNAi), is pleased to announce it has initiated a new site for its ongoing Phase 1/2a TT-034 trial at the Methodist Health System Clinical Research Institute in Dallas, Texas.

16 Sep 2015

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

Common gene mutation may cause brain damage associated with ALS and FTD

Johns Hopkins researchers say they have discovered some of the first steps in how a very common gene mutation causes the brain damage associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

27 Aug 2015

New iPS cell model provides clear drug target for treatment of DMD

Duchenne muscular dystrophy (DMD) is a muscular disease that shows symptoms in early childhood and causes progressive atrophy and eventual death. There is little in terms of treatment, partly because of poor understanding of how DMD develops, although it is known that abnormal expression of the protein dystrophin is at fault.

20 Aug 2015

Muscle mass appears to ward off bad cardiovascular effects of obesity

Even without losing fat, more muscle appears to go a long way in fighting off the bad cardiovascular effects of obesity. That emerging evidence has scientists looking hard for new targets to uncouple the unhealthy relationship between fat and cardiovascular disease.

18 Aug 2015

New technology advances genome engineering

In his mind, Basil Hubbard can already picture a new world of therapeutic treatments for millions of patients just over the horizon. It's a future in which diseases like muscular dystrophy, cystic fibrosis and many others are treated permanently through the science of genome engineering.

11 Aug 2015

Johns Hopkins researchers discover role of TDP-43 protein in autopsy brain cells of patients with ALS

Autopsies of nearly every patient with the lethal neurodegenerative disorder amyotrophic lateral sclerosis (ALS), and many with frontotemporal dementia (FTD), show pathologists telltale clumps of a protein called TDP-43. Now, working with mouse and human cells, Johns Hopkins researchers report they have discovered the normal role of TDP-43 in cells and why its abnormal accumulation may cause disease.

7 Aug 2015

Lund University researchers discovered 'main switch' that regulates cell invaginations

Lack of microinvaginations in the cell membrane, caveolae, can cause serious diseases such as lipodystrophy and muscular dystrophy. Researchers at Lund University in Sweden have now discovered a "main switch" that regulates the formation of these invaginations.

7 Aug 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

Researchers use gene-editing technique involving low-dose irradiation to repair human stem cells

For the first time, researchers have employed a gene-editing technique involving low-dose irradiation to repair patient cells, according to a study published in the journal Stem Cells Translational Medicine. This method, developed by researchers in the Cedars-Sinai Board of Governors Regenerative Medicine Institute, is 10 times more effective than techniques currently in use.

23 Jul 2015

Scientists report new way to mimic the body's natural approach to programming stem cells to treat muscular dystrophy

Stem cells hold great potential for addressing a variety of conditions from spinal cord injuries to cancer, but they can be difficult to control. Scientists are now reporting in the journal ACS Nano a new way to mimic the body's natural approach to programming these cells.

23 Jul 2015

Isis Pharmaceuticals receives $2.15 million milestone payment to advance ISIS-SMN Rx study in children with SMA

Isis Pharmaceuticals, Inc. announced today that it has earned a $2.15 million milestone payment from Biogen related to advancing the ongoing pivotal Phase 3 study (CHERISH) evaluating ISIS-SMN Rx in children with spinal muscular atrophy (SMA).

14 Jul 2015

Study finds gene linked to age-related obesity, diabetes

Practically everyone gets fatter as they get older, but some people can blame their genes for the extra padding. Researchers have shown that two different mutations in a gene called ankyrin-B cause cells to suck up glucose faster than normal, fattening them up and eventually triggering the type of diabetes linked to obesity.

14 Jul 2015

R. Rodney Howell receives ASHG’s annual Advocacy Award

The American Society of Human Genetics (ASHG) has named R. Rodney Howell, MD, Professor in the Department of Pediatrics, Chairman Emeritus of Pediatrics, and Member of the Hussman Institute for Human Genomics, at the University of Miami Leonard M. Miller School of Medicine, as the first recipient of its new, annual Advocacy Award.

1 Jul 2015

Study offers potential ways to preserve muscle mass and strength for people in low-resistance environments

It is well known that muscles need resistance (gravity) to maintain optimal health, and when they do not have this resistance, they deteriorate. A new report published in the July 2015 issue of The FASEB Journal, however, suggests that this might not be true for all muscles, offering hope that there may be ways to preserve muscle mass and strength for individuals in low-resistance environments, whether it be the microgravity of space, extended periods in a hospital bed, or a 9-5 job behind a desk.