Muscular Dystrophies

Research Briefs: DMD, BMD, MMD, SMA

Editor's note 2/7/11: A link to the Tivorsan Pharmaceuticals website has been added.

Duchenne and Becker muscular dystrophies

DMD Progression Studied in Very Young and Nonwalkers

Parents’ Perceptions Sought of DMD/BMD Ataluren Trials

If your child participated in a phase 2 clinical trial of ataluren (PTC124) for Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) conducted by PTC Therapeutics, you're invited to take part in a National Institutes of Health (NIH) study about the experience.

Biobank Collecting Blood Samples for Neuromuscular Disease Research

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Large-Scale Trial of Idebenone in DMD is Now Open

A large-scale, phase 3 trial of idebenone (Catena) in Duchenne muscular dystrophy (DMD) is now open at one U.S. site and several sites in Europe, under the auspices of Santhera Pharmaceuticals.

Longer Chromosome Tips Mean Better Muscle Repair in DMD mice

Dystrophin-deficient mice (known as mdx mice) have been used in experiments as a model of human Duchenne muscular dystrophy (DMD) for decades. However, scientists have long noted that mdx mice, even though they develop a disease that mimics some aspects of human DMD, fare much better than human DMD patients. Mdx mouse muscles don't deteriorate as severely, and their ability to move and maintain heart function is far better than that of humans with the disease.

Research Briefs: DMD, BMD, CMD, SMA

Duchenne and Becker 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

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