Translarn - effective remedy Duchenne!
Translarna or ataluren - an innovative experimental drug designed to combat severe genetic disease muscle disease Duchenne dystrophy or Becker. This is a rare disease that occurs in one person for three thousand. Drug fights with the main symptoms disease - muscle weakness, deterioration of motor abilities, decreased activity of limbs, weakening of the heart muscle, etc. On a deeper level, this is manifested in the dystrophin deficiency.Translarna application - this is the first effective pharmacological therapy against the disease Duchenne.
The principle of action of the drug
Ataluren restores dystrophin protein synthesis processes, working directly with the level of the X-chromosome, which may have the following types of mutations:
- Removal of part of the gene;
- Insert an additional piece of DNA into the genome;
- Repetition of the gene;
- Changes and improvements;
- Nonsense mutations.
Mutation may occur in any part of the gene and in 10-15% of cases cause disease Duchenne.
How to find out about the need for drugs?
The only way to determine the presence of mutations is a special genetic analysis. Without taking its holding Translarna strictly prohibited. The test detects which type of mutation occurred, and depending on the nature of the treatment is determined.
Notably, it is effective only when ataluren nonsense mutations. This type of mutations seen in the formation of premature stop codons, and they in turn block the production of a protein essential for the proper functioning of the body.Translarna neutralize this stop signal, and allows the protein to read the genetic code. Its reception is possible for boys from 5 years after the analysis confirm the disease Duchenne.
Useful and side effects
During the experiments, experts Israeli center "Hadassah Har ha-Mount Scopus," which was aimed at identifying the beneficial properties of the drug, one group of patients given Ataluren, and another group - placebo. As a result of side effects from manifested in both groups, but they were not significant (diarrhea, headache, nausea). In general, these symptoms occurred in young people. However, after the experiment was found positive changes in motor activity recovery. There have been positive changes in the functioning of muscles, strengthening them. Dystrophin protein began to be produced more intensively.
Determination of negative factors reception atalurena
The study drug is not over yet, as the definition of serious consequences for receiving translarna needs some more activities. Today found that low dosages preparation has a positive effect. European pharmacological agency indicates that the benefits of public health atalurena significantly greater than the risks. Nevertheless, planned for the next phase of the experiment, in which patients will be treated in Germany, France, USA, Switzerland, etc.
Translarna will not have positive dynamics, if patients are not able to move, so for the next phase of the study must adhere to certain restrictions, namely to abandon:
- Antibiotics for 3 months;
- Corticosteroids within 6 months after the experiment;
- The use of anticoagulants;
- Surgery, etc.
All this, according to the doctors, can lead to negative factors influence atalurena. But if the last phase will be carried out successfully, the drug can help many people to get closer to a normal lifestyle.

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