Patient Registry Demonstrates The Effectiveness of Translarna in Duchenne Muscular Dystrophy

According to a story from, the biopharmaceutical company PTC Therapeutics recently announced the release of initial data from the first drug registry for its product Translarna (ataluren). This registry monitors the condition of Duchenne muscular dystrophy patients who are using the drug. The data suggested that the drug confers substantial benefits for its users. Translarna is meant to treat Duchenne muscular dystrophy caused by a nonsense mutation.

About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a neuromuscular disease, and it is one of the more severe types of muscular dystrophy. It is characterized by progressive muscle weakness that usually begins around age four and worsens quickly. As an X-linked genetic disease, boys are mostly affected, with girls only occasionally displaying mild symptoms. The disease is caused by mutations of the dystrophin gene. Symptoms of Duchenne muscular dystrophy include falling, abnormal walking posture, eventual loss of walking ability, muscle fiber deformities, intellectual disability (not in all cases), enlargement of the tongue and calf muscles, skeletal deformities, muscle atrophy, heart abnormalities, and difficulty with breathing. Treatment includes a variety of medications and therapies that can help alleviate symptoms and slow disease progression. Lifespan is usually into the thirties with good care. Better treatments for this disease are urgently needed. To learn more about Duchenne muscular dystrophy, click here.

The goal of treatment with Translarna is to slow the characteristic muscle atrophy that is appears with muscular dystrophy. The evidence from the drug registry demonstrated Translarna’s effectiveness; the treatment was able to keep patients from becoming disabled for longer. Patients taking Translarna were able to maintain their walking ability for years longer as an example. Duchenne muscular dystrophy patients taking the drug generally lost their walking ability at a median age of 16.5 years. Without it, patients may, on average, lose their mobility nearly five years earlier.

The loss of walking ability is an important moment in the progression of Duchenne muscular dystrophy, as many patients will start having difficulty breathing and loss of arm movement not long after. With this in mind, the years of extra walking time are absolutely essential to patients and their families.

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