Gene therapy as a new treatment option for inherited monogenic diseases.

Background: Gene therapy, replacing a defective gene by a functional copy, has been in development for more than 40years. Initial efforts involved engineering viral vectors to deliver genes to the appropriate cells. Early successes in severe combined immunodeficiency (SCID) were later derailed by safety issues including host reaction to the vector and gene insertion near promoters that favored secondary leukemia.

Methods: Systematic review of the literature using PubMed.gov with key word gene therapy from 1972 to March 2013. Google search with key word gene therapy.

Results: Despite early setbacks, progresses for monogenic diseases continued unabated. Patients with SCIDs have been cured and the first gene therapy has been approved for lipoprotein lipase deficiency. Many clinical research studies are ongoing as part of systematic clinical development program with a view to have more gene therapies approved.

Conclusion: Our review highlights progresses and questions that remain to be answered to make gene therapy an integral part of our therapeutic arsenal.