Preliminary results of the first pilot study on gene therapy for Fabry disease have been published in the “Nature Communication”. Fabry disease is a hereditary disease caused by a mutation in the GLA gene, which codes for the alpha-galactosidase enzyme. Patients normally need to undergo replacement therapy every two weeks. The single-arm study involved 5 adult male patients with Fabry type I disease, who were treated with an infusion of autologous hematopoietic stem cells modified to express the alpha-galactosidase A enzyme. The 5 patients treated, began producing the corrected version of the enzyme at near-normal levels within one week of administering therapy. After three years, 3 out of 5 patients decided to stop intravenous enzyme replacement therapy, remaining stable.
