Ex vivo Gene Therapy: In Human Trials in Fabry Disease

Fabry disease is a rare, X-linked lysosomal storage disorder caused by mutations in the GLA gene, which result in a functional deficiency of the enzyme, alpha-galactosidase A (AGA).  This leads to progressive accumulation of glycosphingolipids in various cells throughout the body.  Significant morbidity and early mortality result from end-organ damage in the kidneys (end-stage renal disease), heart (hypertrophic cardiomyopathy, diastolic heart failure, and arrhythmias), and brain (vascular stroke).  Other non-life-threatening clinical features that significantly impact Quality of Life include pain due to acroparesthesias from sensory peripheral neuropathy, recurrent attacks of abdominal pain with diarrhea and constipation, sensorineural hearing loss, and hypo- or anhidrosis.
Although options are currently available for treatment of Fabry disease, including enzyme replacement therapy and chaperone therapy, limitations are associated with each of these therapeutic approaches.  AVR-RD-01 is an ex vivo, lentiviral vector-mediated gene therapy being developed for the treatment of patients with Fabry disease.  After undergoing an outpatient conditioning regimen, autologous CD34+ cells that have been genetically modified to express functional AGA are returned to the patient by IV infusion.  AVR-RD-01 is intended for single administration and has the potential to provide sustained therapeutic levels of functional AGA over the patient’s lifetime.  Based on promising initial results from an ongoing Phase 1 trial, a Phase 2 clinical trial has been initiated in patients with Fabry disease.
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