Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.

Abstract

Infantile malignant osteopetrosis is a devastating disorder of early childhood that is frequently fatal and for which there are only limited therapeutic options. Gene therapy utilizing autologous hematopoietic stem and progenitor cells represents a potentially advantageous therapeutic alternative for this multisystemic disease. Gene therapy can be performed relatively rapidly following diagnosis, will not result in graft versus host disease, and may also have potential for reduced incidences of other transplant-related complications. In this review, we have summarized the past sixteen years of research aimed at developing a gene therapy for infantile malignant osteopetrosis; these efforts have culminated in the first clinical trial employing lentiviral-mediated delivery of TCIRG1 in autologous hematopoietic stem and progenitor cells.

• Authors: Ilana Moscatelli, Elena Almarza, Axel Schambach, David Ricks, Ansgar Schulz, Christopher D Herzog, Kim Henriksen, Maria Askmyr, Jonathan D Schwartz, Johan Richter
• Journal: Molecular therapy. Methods & clinical development (Mol Ther Methods Clin Dev) Vol. 20 Pg. 389-397 (Mar 12 2021) ISSN: 2329-0501 [Print] United States
• PMID: 33575431 (Publication Type: Journal Article, Review)
• Copyright: © 2020 The Author(s).