Progress with Recombinant Adeno-Associated Virus Vectors for Gene Therapy of Alpha-1 Antitrypsin Deficiency

UMMS Affiliation

Department of Pediatrics, Division of Pulmonary and Allergy; Gene Therapy Center

Publication Date


Document Type



Genetics | Pediatrics | Pulmonology | Therapeutics


The pathway to a clinical gene therapy product often involves many changes of course and strategy before obtaining successful results. Here we outline the methodologies, both clinical and preclinical, that went into developing a gene therapy approach to the treatment of alpha-1 antitrypsin deficiency lung disease using muscle-targeted recombinant adeno-associated virus. From initial gene construct development in mouse models through multiple rounds of safety and biodistribution studies in rodents, rabbits, and nonhuman primates to ultimate human trials, this review seeks to provide insight into what clinical translation entails and could thereby inform the process for future investigators.

DOI of Published Version



Hum Gene Ther Methods. 2015 Jun;26(3):77-81. doi: 10.1089/hgtb.2015.086. Link to article on publisher's site

Journal/Book/Conference Title

Human gene therapy methods

Related Resources

Link to Article in PubMed

PubMed ID