Rare lung disease in children – A new gene and cell therapy

(herPAP) is a rare lung disease found in children that is caused by mutations in the receptor genes.  It is a dangerous disease resulting in several respiratory problems.Hereditary pulmonary alveolar proteinosis is caused by a buildup of an oily substance in the air pockets of the lungs which reduces the functioning of the lungs and then to lung failure. Premature babies are at a risk of lung failure as their air sacs will not remain open. On the other hand children with pulmonary alveolar proteinosis have a large amount of surfactants in their air sacs that become overinflated and as a result get drowned internally.

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So far this disease could only be treated by a highly invasive procedure of repetitive whole lung lavage.  This is a procedure that requires anesthesia and involves mechanical ventilation. The doctors attach a breathing tube in one lung and the other lung is filled with salt water. The same process is repeated on the other lung after a few days. This process is like washing out butter from a sponge with a hose pipe.

In the recent times researchers have introduced a new technique of transplanting gene-corrected macrophage cells directly into the lungs which is found to be effective and longlasting. Experiments on mice have been shown to effectively treat their pulmonary alveolar proteinosis which is a hereditary lung disease that is also found in humans. The therapy cured the lung disease of the mice for atleast oneyear. This also prevented death of mice due to the disease.

Researchers are planning clinical trials of macrophage transplantation and hope to begin the clinical studies in two to three years.  Earlier researchersfound that bone marrow transplantation done was effective with animals, but failed when used on human beings. The answer to the question lies in how many cells to transfer and how does the body produce. It is a vast and vague research which will require intense study and experiments before the treatment of hereditary pulmonary alveolar proteinosis by the technique of transplanting gene-corrected macrophage cells directly into the lungs will be easily conducted in human beings.