Targeted Gene Therapy Shows Promise for Emphysema

The current mainstay of treatment for patients affected by Alpha-1-Antitrypsin Deficiency (AATD), the most common genetic cause of emphysema, involves inconvenient and expensive weekly infusions of the normal AAT protein.

In a recent study appearing in the journal Molecular Therapy – Methods & Clinical Development, researchers at the Center for Regenerative Medicine (CReM) of Boston University and Boston Medical Center used an experimental model of AATD to deliver normal copies of the AAT gene directly to the lung cells.

The results were promising, as the corrected gene was found to persist in the lung cells for at least one year following the transgene delivery. Furthermore, the researchers found that once the normal gene was incorporated into the host DNA, the AAT protein was produced in quantities sufficient to lessen the severity of the lung disease.

“These results support direct transgene delivery to the lung as a potential alternative approach to achieve the goal of developing a gene therapy for AATD,” explained corresponding author Andrew Wilson, MD, assistant professor of medicine .

Note: This work was a collaboration between The CReM, The Pulmonary Center at BUSM, the Department of Biomedical Engineering at BU and the Ragon Institute of Massachusetts  General Hospital, Massachusetts Institute of Technology and Harvard University.

Funding for this study was provided by an Alpha-1 Foundation Research Grant, and a Boston University School of Medicine Department of Medicine Career Investment Award.

Submitted by Elie Sader, MD