In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer

Hermansky–Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available. Genetic correction directed to the lungs, bone marrow and/or gastro-intestinal tract might provide alternative forms of treatment for the diseases multi-systemic complications. We demonstrate that lentiviral-mediated gene transfer corrects the expression and function of the HPS1 gene in patient dermal melanocytes, which opens the way to development of gene therapy for HPS. •A lentiviral-mediated gene transfer system was developed for Hermansky–Pudlak syndrome (HPS).•HPS1 protein expression was restored in human dermal melanocytes from HPS patients after lentiviral-mediated gene HPS1 gene transfer.•Expression of HPS4 protein was also reconstituted in HPS dermal melanocytes indicating the restored stability of BLOC-3 in gene-corrected cells.•The results are promising regarding the feasibility of gene therapy approaches for HPS.