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Relevant Background


  • AVROBIO has two ongoing clinical studies of AVR-RD-01. AVR-RD-01 is an investigational gene therapy for Fabry disease.
  • Eight patients have been dosed across these two studies. There are five patients in the investigator-sponsored Phase 1 trial, which is fully enrolled. There are three patients enrolled so far in the Phase 2 trial. We anticipate enrolling 8 to 12 patients in Phase 2.
  • The primary endpoint of the Phase 2 trial is the average number of Gb3 inclusions per kidney peritubular capillary (PTC), which is measured through a kidney biopsy. This is an FDA-recognized endpoint in Fabry disease.
  • Gb3 is a substrate, which is a substance that builds up in tissue cells due to the lack of AGA enzyme activity in people with Fabry.


New Data Release


  • At the one year follow up mark, the first patient dosed in the Phase 2 trial showed an 87% reduction in the average number of Gb3 inclusions in the first kidney biopsy.
  • In the first four patients enrolled in the Phase 1 study, plasma (blood) lyso-Gb3 was reduced between 33% and 41% below the patients’ enzyme replacement therapy (ERT) levels before receiving AVR-RD-01.
  • There are six patients across the Phase 1 and Phase 2 trials for whom data are reported at six months or longer post-treatment with AVR-RD-01. These data show sustained AGA enzyme activity and consistent vector copy number (VCN) trends, with VCN levels for the first Phase 1 patient stable at more than two years post-treatment.
  • In both the Phase 1 and Phase 2 trials, no serious adverse events (SAEs) related to AVR-RD-01 have been reported. The SAEs and AEs reported have been consistent with the conditioning regimen, the underlying disease, or pre-existing conditions.

As you may have also seen, The U.S. Food and Drug Administration (FDA) recently cleared AVROBIO’s Investigational New Drug (IND) application for AVR-RD-01. This means the company can begin enrolling Fabry patients at clinical sites in the U.S. and plans to start enrolling in the second half of 2019.