Muscular Dystrophies

Does Spirituality Influence Acceptance of Disability?

With approximately 54 million Americans living with disabilities, exploring and understanding factors that might facilitate or hinder acceptance of one’s disability may be an important area of research.

But what exactly is the relationship between religious/spiritual attitudes and acceptance or lack of acceptance of disability for people with neuromuscular disorders?

Encouraging Results in LGMD Gene Therapy Trial

Results from an MDA-supported, phase 1 study of gene therapy for the type 2D form of limb-girdle muscular dystrophy (LGMD2D) show sustained protein production from the transferred genes in two out of three trial participants six months after injection of the genes into a foot muscle.

The new results follow an announcement last year showing protein production from transferred genes in the first three participants in this trial at either six weeks or three months after the gene transfer.

Early-Life Protein, Made Too Late, Causes Trouble in FSHD

Little by little, the molecular underpinnings of facioscapulohumeral muscular dystrophy (FSHD) are yielding to scientific investigations. The latest revelations about a protein known as DUX4, announced in October, could bring a treatment for FSHD closer to the clinic.

About recent FSHD research

Viagra May be Heart Helper in DMD

Results from a recent study have shown that treatment with the drug sildenafil (brand name Viagra) conferred both long-term protection against cardiac (heart) dysfunction in younger mice, and rapid reversal of heart damage in aged mice with a disease resembling Duchenne muscular dystrophy (DMD).

Research Briefs: DMD

Anti-myostatin drug trial shows good preliminary results

Intravenous AVI4658 Shows Safety, Benefit in DMD

The experimental drug AVI4658, in development by AVI BioPharma to treat Duchenne muscular dystrophy (DMD) caused by specific genetic mutations, was well tolerated and resulted in increased production of the needed dystrophin protein. Measured aspects of cardiac, pulmonary and skeletal muscle function remained stable.

Low-Dose Ataluren Shows Some Benefit in DMD/BMD

A low-dose regimen of ataluren (formerly called PTC124), an experimental drug developed by PTC Therapeutics to treat  Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) caused by a certain type of genetic mutation, is superior to a high-dose regimen or a placebo.

Immune Response Must Be Considered in DMD Gene Therapy

Editor's note: This story was updated April 27, 2012.

Immune-system rejection of newly synthesized dystrophin protein occurred in at least some of the boys with Duchenne muscular dystrophy (DMD) who participated in a safety trial of dystrophin gene therapy.

The finding was a partial surprise to researchers and demonstrates the value of small, phase 1 clinical trials.

The Future of Antisense: FDA, NIH Talk It Out

This story was updated Oct. 6, 2010.

Researchers, clinicians, pharmaceutical industry executives, and representatives from advocacy groups, including MDA, met in Washington Sept. 27-28, 2010, to discuss moving forward with antisense-based therapies for neuromuscular disease.

NIH Continues Funding for MD Research

The U.S. National Institutes of Health (NIH) announced Sept. 29, 2010, that it will allocate more than $4.5 million for the first year of a five-year commitment to explore new treatment strategies for various forms of muscular dystrophy.

Support will go to three U.S. institutions: Nationwide Children's Hospital in Columbus, Ohio; the University of Pennsylvania in Philadelphia; and the University of Iowa in Iowa City.

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