Recommendations for treatment of inherited lung disease are unjustified

July 6, 2010, Wiley

An expensive treatment recommended for a genetic disorder called alpha-1 antitrypsin deficiency has no proven clinical benefit, according to a systematic review by Cochrane Researchers. The disorder causes chronic lung disease and the review concludes that considering the lack of evidence for its benefits, and possible adverse effects, the treatment should not be recommended.

Alpha-1 antitrypsin deficiency affects less than one in 1,600 people. Those who inherit the disorder have low levels of the protein alpha-1 antitrypsin, also called alpha-1 proteinase inhibitor, which protects the tissue of the lungs from destruction by the body's own . At a relatively young age, this can result in symptoms of , including shortness of breath and wheezing. The aim of alpha-1 antitrypsin replacement therapy is to give the patient back the protective protein they are missing. This should limit damage to lungs and, ultimately, prevent early death. The protein is extracted from blood donated by healthy volunteers.

The researchers reviewed data from two trials involving a total of 140 people with the disorder, all of whom were at a high genetic risk of developing . In one trial, patients were given intravenous alpha-1 antitrypsin or a placebo every four weeks for three years and in the other, the protein or a placebo was given weekly for a minimum of two years. There was no difference between treatment and control groups in terms of exacerbations of lung disease, or quality of life. Combining the results from the trials, the review authors found no evidence of a clinically important effect on ; indeed the results suggested modest harm, or at best no effect. In contrast, the treatment might cause a reduction in the deterioration of lung appearance on , but it is not clear whether this is a clinically meaningful difference.

Based on this evidence, the researchers say the treatment, which costs up to $150,000 a year in the US, cannot be recommended. "The drug has not shown any clinical benefit, is extremely costly and has important adverse effects," said lead researcher Peter Gøtzsche of the Nordic Cochrane Center at Rigshospitalet in Copenhagen, Denmark. "In view of the lack of evidence and high cost of treatment, treating alpha-1 antitrypsin deficiency by replacement therapy cannot be recommended."

Neither of the trials included in the review reported mortality data and the researchers point out that adverse events were not well reported. In previous studies, a small proportion of patients suffered allergic reactions and breathing difficulties following treatment.

The researchers say recommendations by the American Thoracic Society and European Respiratory Society that promote alpha-1 antitrypsin replacement are misguided. "Both societies recommend augmentation therapy for patients with breathing problems related to alfa-1 antitrypsin deficiency. In our opinion, these recommendations are not reasonable," said Gøtzsche.

Related Stories

Recommended for you

Research finds new mechanism that can cause the spread of deadly infection

April 20, 2018
Scientists at the University of Birmingham have discovered a unique mechanism that drives the spread of a deadly infection.

Selection of a pyrethroid metabolic enzyme CYP9K1 by malaria control activities

April 20, 2018
Researchers from LSTM, with partners from a number of international institutions, have shown the rapid selection of a novel P450 enzyme leading to insecticide resistance in a major malaria vector.

Study predicts 2018 flu vaccine will have 20 percent efficacy

April 19, 2018
A Rice University study predicts that this fall's flu vaccine—a new H3N2 formulation for the first time since 2015—will likely have the same reduced efficacy against the dominant circulating strain of influenza A as the ...

Low-cost anti-hookworm drug boosts female farmers' physical fitness

April 19, 2018
Impoverished female farm workers infected with intestinal parasites known as hookworms saw significant improvements in physical fitness when they were treated with a low-cost deworming drug. The benefits were seen even in ...

Zika presents hot spots in brains of chicken embryos

April 19, 2018
Zika prefers certain "hot spots" in the brains of chicken embryos, offering insight into how brain development is affected by the virus.

Super-superbug clones invade Gulf States

April 18, 2018
A new wave of highly antibiotic resistant superbugs has been found in the Middle East Gulf States, discovered by University of Queensland researchers.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.