PTC Therapeutics is a pharmaceutical company that has been working with Translarna, a medication intended for the treatment of Duchenne muscular dystrophy (DMD). They analyzed this treatment and presented the findings, which demonstrated that Translarna preserves the ability to walk in those with DMD. Not only did it aid in the ability to walk, but it also helped to treat pulmonary symptoms. Using the STRIDE registry, PTC was able to complete their analysis of Translarna.
About Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is one of the nine forms of muscular dystrophy. This disorder is characterized by the progressive deterioration of muscles, which eventually leads to the atrophy of the heart and respiratory system. Quadriplegia is also a result of DMD. About one of every 3,500 males are affected by DMD, but only one of every 50 million females are born with this disorder.
Symptoms of DMD tend to present themselves before age six. Weakness begins in the thighs, legs, and pelvis, before progressing to the rest of the body. Falls occur frequently, and motor skill problems happen as well. People experience difficulty with moving positions and walking. Fatigue, learning disabilities, a low IQ, heart disease, and respiratory failure are other symptoms of DMD.
People with DMD have a genetic mutation that stops them from producing dystrophin, which results in muscle weakness. This gene is inherited in an X-linked recessive pattern, which is why males are primarily affected.
A series of tests are required to diagnose DMD. They include EMGs, genetic testing, muscle biopsies, and CPKs. After a diagnosis is obtained, treatment consists of steroids, asthma medications, amino acids, activity, assisted breathing, heart medicine, and carnitine, CoQ10, creatine or other supplements.
Translarna is a protein restoration therapy. It is meant to activate the formation of working proteins in those with genetic disorders that are the result of nonsense mutations. It is approved for the treatment of DMD patients over the age of two in Europe, and it is currently an investigational new drug in America.
Analysis of STRIDE
The STRIDE registry contains a number of people with DMD. Some of these people have been treated with Translarna in addition to the current standard of care, while others have only received the standard of care. Results of this analysis saw that those who were treated with Translarna were able to walk independently for 3.5 years longer than those who only received the standard of care.
The study found that those taking Translarna were better able to complete everyday tasks, such as walking up the stairs, standing up from lying down, and other movements. Not only were these observations found, but researchers also discovered that pulmonary function was improved through the use of Translarna.
This analysis demonstrated that Translarna actively treats the major symptoms of Duchenne muscular dystrophy, and medical professionals hope that it will continue to better the lives of those with DMD.
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