New drug to help with muscle atrophy

Duchenne muscular dystrophy is the most common form of muscle wasting. "One in 3,500 boys develops Duchenne muscular dystrophy. The disease is usually diagnosed between the ages of two and four years. The loss of walking ability occurs at eight to twelve years. There is a scoliosis, the patients develop a respiratory disorder, in the end the heart muscle suffers, "says Günther Bernert, CEO of Preyer's Children's Hospital in Vienna, the disease in conversation with the news agency" APA ".

New drug for muscle wasting is promising
Although it has been possible over the past few decades to significantly increase the life expectancy of those affected, muscle wastage is not curable. "In the past, those affected were 15 years old, now we are near 40 years," says the neuropediater during the annual meeting of pediatric neurologists in the Austria Center Vienna.

For a long time, cortisone was considered the best way to delay the progression of the disease. In the field of gene therapy, which was supposed to replace the disease-defective dystrophin gene, there have been experiments that have since been discontinued. A new drug that has been approved for about a year in Europe is now considered the most promising form of treatment. "Translarna" is a synthetic drug that can delay worsening of the disease in boys whose Duchenne muscular dystrophy is caused by a so-called nonsense mutation of the dystrophin gene.

"In these mutations, the reading process of the dystrophin gene is interrupted, there is no protein. The active ingredient causes the gene error to be skipped. At least one abbreviated protein is produced, "explains Bernert. The therapy with "Translarna" is however costly. Currently, the treatment costs are around 300,000 euros per year.

Duchenne muscular dystrophy is very rare
Duchenne muscular dystrophy is a rare genetic disease in which sufferers gradually lose their muscle function. "Translarna" can only be used in a small group of Duchenne patients whose disease is due to a specific genetic defect. Affected patients have a lack of normal dystrophin. It's a protein that keeps the muscles from contracting and relaxing. Due to the lack of this protein, the muscles suffer permanent damage until they stop working. "Translarna" causes again functioning dystrophin proteins to be formed. (Ag)