The biopharmaceutical company Sarepta Therapeutics announced today that its experimental exon-skipping compound, eteplirsen, resulted in an increase in dystrophin and  "significant clinical benefit" on the six-minute walk test in a phase 2b trial in boys with Duchenne muscular dystrophy (DMD) caused by specific mutations.

The experimental exon-skipping drug eteplirsen, in development by Sarepta Therapeutics to treat approximately 13 percent of boys with Duchenne muscular dystrophy (DMD), has been found to have significant functional and biochemical benefits in a phase 2b trial.

An MDA-supported, short-term trial of the vasodilating drug tadalafil (Cialis) in teens and men with Becker muscular dystrophy (BMD) has undergone some minor restructuring and is now open to 12 additional participants.

Lack of availability of the MRI (magnetic resonance imaging) device during specific periods of time was the reason for redesigning the trial, according to principal investigator Ronald Victor.

In 2003, the average life expectancy for a person with the genetic lung disease cystic fibrosis was 33 years. But at some cystic fibrosis medical centers, life expectancy was more than 47 years. The Cystic Fibrosis Foundation wanted to know why. Using its national patient registry, the foundation identified which medical centers achieved optimum outcomes, identified the clinical practices that led to those outcomes and then disseminated that information to its national clinical network — improving care for everyone with cystic fibrosis.

A new, multinational study of type 2B limb-girdle muscular dystrophy (LGMD2B) and Miyoshi myopathy— both of which result from mutations in the gene for the muscle protein dysferlin and are known as dysferlinopathies or dysferlin deficiency — is inviting people with either disorder to participate.

Santhera Pharmaceuticals presented clinical data Oct. 21, 2011, indicating that the experimental drug idebenone (brand name Catena) modestly slows the decline in some measurements of respiratory function in people who have Duchenne muscular dystrophy (DMD).

Newborn screening for Duchenne muscular dystrophy (DMD) was the topic of discussion and debate at MDA's Muscle Symposium on Sept. 11-12, 2012.  

Newborn screening is the widespread practice of screening babies for certain diseases that can be detected at birth, and in which an early treatment or intervention is available and definitively linked with better outcomes.

Inflammation— the immune system's first line of defense in tissue that's been damaged by injury or infection — is a good example of a process that's a good thing up to a point and under certain circumstances and a bad thing in excess or under the wrong circumstances.

Mice with a disease resembling spinal-bulbar muscular atrophy (SBMA, or Kennedy disease) that were treated with a compound based on insulin-like growth factor 1 (IGF1) had better motor function, slower weight loss, healthier muscles and longer survival time than mice that received an inactive substance, an MDA-supported research team has reported.

Videos of the entire MDA-sponsored Becker Muscular Dystrophy Conference, held in Chicago on Aug. 11, 2012, are now archived on the Conference video page.