Researchers from the RCSI have made an important breakthrough in the understanding and treatment of hereditary emphysema.

The findings of this global study, published in the premier medical journal, Lancet, indicate that early introduction of A1P1 protein augmentation therapy to patients with emphysema may be beneficial in the treatment of the condition.

Professor Gerry McElvaney, Department of Medicine, RCSI led a team of international colleagues to scientifically validate that A1P1 protein augmentation therapy is successful in slowing the progression of emphysema and loss of lung density, signalling a breakthrough in the treatment of hereditary emphysema.

Alpha-1 is an inherited disorder that results in low levels of the alpha 1-antitrypsin (A1P1) protein in blood and in the lungs. In adults, this genetic condition often results in debilitating syndromes such as chronic obstructive pulmonary disease (COPD), which comprises emphysema and chronic bronchitis. Emphysema is characterised by destruction of the lung tissue needed to carry oxygen from the air into the bloodstream and chronic bronchitis leads to the over production of mucus in the lungs. This causes shortness of breath in its mildest form and in its severest form, patients must use an oxygen mask and may need a lung transplant. The first single lung and first double lung transplant recipients in Ireland were people with Alpha-1.

Alpha-1 is much more common in Ireland than most other countries. After cystic fibrosis, it is the most common fatal inherited lung condition in Ireland. Alpha-1 is estimated to affect more than 3,000 people nationally in its most severe form and the less severe form may affect as many as 200,000 individuals in Ireland. 1 in 25 Irish individuals carry the gene for the disease.

The findings of this study increases the chances that this form of therapy will be licensed and reimbursed in Ireland in the future. Augmentation therapy is the use of alpha-1 antitrypsin protein (AAT) purified from the blood of healthy human donors to increase the alpha-1 levels circulating in the blood and lungs of Alphas diagnosed with emphysema.

The study, which was carried out in 28 centres across 13 countries, measured the efficacy of augmentation therapy over a four year period. A total of 23 patients from Ireland were involved in the study, the majority of whom are still receiving the medication today. 

Commenting on the findings, Professor Gerry McElvaney, Professor of Medicine, RCSI said, “The findings of the study shows that augmentation therapy involving a naturally occurring protein is successful and early treatment is of benefit. This research gives new hope for a better quality of life for sufferers of hereditary emphysema and COPD and thus bridges the gap between research and treatment.” 

The research findings were published in Lancet, a prestigious journal that highlights medical advances resulting from scientific research. The study was carried out by a team of global physicians from countries including Canada, Denmark, Australia and Ireland on behalf of the RAPID Trial Study Group and was funded through CSL Behring and the Alpha One Foundation.