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.

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.

In July 2012, Sarepta Therapeutics announced encouraging interim results for its phase 2b trial of eteplirsen, an experimental exon-skipping drug in development to treat Duchenne muscular dystrophy (DMD) caused by specific mutations in the dystrophin gene.

In July, days before the U.S. House of Representatives and Senate went into recess, bipartisan legislation was introduced in both houses to strengthen research into pediatric diseases.

The Muscular Dystrophy Association has awarded 33 new grants totaling $10,684,481 to fund research projects focused on uncovering the causes of, and developing therapies for, neuromuscular disease.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Aug. 1.

Exon skipping is an experimental therapeutic strategy in which regions — exons— of a gene are targeted and blocked ("skipped") by laboratory-designed molecules. The goal is that the remaining genetic instructions will lead to production of a shorter but still-functional protein.