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Abstract: PO0561

Pegunigalsidase Alfa, PEGylated α-Galactosidase-A Enzyme in Development for the Treatment of Fabry Disease, Shows a Correlation Between Renal Gb3 Inclusion Clearance and Reduction of Plasma Lyso-Gb3

Session Information

Category: CKD (Non-Dialysis)

  • 2102 CKD (Non-Dialysis): Clinical, Outcomes, and Trials

Authors

  • Tuffaha, Ahmad M., Kansas University Medical Center, Kansas City, Kansas, United States
  • Hughes, Derralynn, LSDU, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, London, United Kingdom
  • Boyd, Simeon, Department of Pediatrics, Section of Genetics, MIND Institute, UC Davis Medical Center, Sacramento, California, United States
  • Giraldo, Pilar, Hospital de Dia Quiron, Zaragoza, Spain
  • Holida, Myrl D., University of Iowa Hospitals and Clinics, Iowa City, Iowa, United States
  • Atta, Mohamed G., Department of Medicine, Division of Nephrology, Johns Hopkins, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
  • Goker-Alpan, Ozlem, O&O Alpan LLC, Fairfax, Virginia, United States
  • Nicholls, Kathleen M., Nephrology Department, the Royal Melbourne Hospital, Melbourne, Victoria, Australia
  • Schiffmann, Raphael, Baylor Institute of Metabolic Diseases, Baylor University Medical Center, Dallas, Texas, United States
  • Maegawa, Gustavo, University of Florida, Department of Pediatrics/Genetics & Metabolism, Gainesville, Florida, United States
  • Barisoni, Laura, Duke University, Durham, North Carolina, United States
  • Colvin, Robert B., Massachusetts General Hospital ,Harvard Medical School, Department of Pathology, Boston, Massachusetts, United States
  • Jennette, J. Charles, University of North Carolina, Department of Pathology, Chapel Hill, North Carolina, United States
  • Alon, Sari, Protalix Biotherapeutics, Carmiel, Northern, Israel
  • Szlaifer, Mali, Protalix Biotherapeutics, Carmiel, Northern, Israel
  • Almon, Einat, Protalix Biotherapeutics, Carmiel, Northern, Israel
  • Chertkoff, Raul, Protalix Biotherapeutics, Carmiel, Northern, Israel
Background

Fabry disease (FD) is caused by the loss of function of the lysosomal enzyme α-Galactosidase-A leading to the accumulation of globotriaosylceramide (Gb3). Reduction in histological Gb3 burden in renal peritubular capillaries (PTC) is considered an appropriate and objective surrogate endpoint, likely to predict the clinical benefit of treatment in FD. Pegunigalsidase-alfa is a novel PEGylated enzyme in development for the treatment of FD with enhanced pharmacokinetics.

Methods

The phase I/II (NCT01678898) dose-ranging studies (0.2mg/kg; 1 mg/kg; 2mg/kg) were designed to evaluate the safety (primary objective), pharmacokinetics and efficacy (secondary objective) of pegunigalsidase-alfa administered IV every 2 weeks in adult symptomatic FD treatment naïve male and female patients. The Barisoni Lipid Inclusion Scoring System (BLISS) was adopted to quantitively assess patients’ renal biopsies taken at baseline and at 6 months of treatment. BLISS methodology consists of counting the number of Gb3 inclusions per peritubular capillary; a decrease in the score is indicative of clinical improvement.

Results

Renal biopsies were available and evaluated in 13 out of 16 patients allocated in the three dose groups. Mean BLISS score at baseline was 4.23, proving an important renal involvement, and was reduced to a mean of 0.83 after 6 months (-67.8% ± 3.3 %) with an 86.5% reduction in the 1 mg/kg dose cohort. From the totality of the available biopsies (14, including one subject with an FD cardiac variant), 78.6% of patients reached ≥50% reduction in BLISS score.

Conclusion

These results show a profound reduction in Gb3 inclusion in PTC after 6 months of pegunigalsidase-alfa treatment. A high correlation (r=0.800) between the reduction in plasma Lyso Gb3 and the reduction of kidney Gb3 inclusions in the kidney biopsies was observed, giving additional support to the potential effectiveness of pegunigalsidase alfa in treating FD.

Funding

  • Commercial Support – Chiesi USA, Protalix Biotherapeutics