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What can we expect from enzyme replacement on renal involvement ?

Explore the impact of enzyme replacement therapy on renal involvement in Fabry Disease. Understand the disease progression, symptoms, and benefits of ERT. Learn about organ-specific progression and the efficacy of treatment. Dive into research findings on eGFR, alb/creat ratio, inulin clearance, and outcomes in patients. Discover insights on children's response to ERT, including improvements in symptoms and autonomic function. This comprehensive overview sheds light on the expectations from enzyme replacement therapy for renal complications in Fabry Disease.

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What can we expect from enzyme replacement on renal involvement ?

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  1. L Dubourg Exploration fonctionnelle rénale et Unité de Néphrologie Pédiatrique Hôpital E Herriot et Université Claude Bernard - INSERM U 820 - Lyon What can we expect from enzyme replacement on renal involvement ? ESPN Lyon 2008

  2. Fabry disease • X-linked inherited lysosomal storage disorder • deficiency of a-galactosidase A • progressive accumulation of globotriaosylceramide (Gb3)

  3. Fabry disease pain gastro-intestinal symptoms early symtoms skin late symtoms kidney heart brain • Accumulation in many types of cells • nervous system • skin • heart • kidney • vascular endothelial cells

  4. Renal involvement in Fabry disease Tondel et al., Am J Kidney Disease, 2008

  5. Renal involvement in Fabry disease Thurberg et al., kidney int 2002

  6. Organ–specific disease progression Breuning et al., J Nephrol, 2008

  7. Renal involvement in Fabry disease Branton et al., Medicine, 2002

  8. Enzyme replacement therapy (ERT) • double-blind • placebo controlled period • 54 months • 58 patients (56 males) • mean age 31.1 years • Pcr 71 ± 17.7 µmol/l Germain et al., J Am Soc Nephrol 2007

  9. ERT Thurberg et al. kidney int 2002 Germain et al., J Am Soc Nephrol 2007

  10. ERT Thurberg et al. kidney int 2002 Germain et al., J Am Soc Nephrol 2007

  11. ERT Thurberg et al. kidney int 2002 Germain et al., J Am Soc Nephrol 2007

  12. ERT Thurberg et al. kidney int 2002 Germain et al., J Am Soc Nephrol 2007

  13. Enzyme replacement therapy (ERT) eGFR Germain et al., J Am Soc Nephrol 2007

  14. Enzyme replacement therapy (ERT) Germain et al., J Am Soc Nephrol 2007

  15. Enzyme replacement therapy alb/creat (mg/mmol) 140 120 100 (n = 6) -0.8 ±0.8 80 inulin clearance (ml/min/1.73 m2) -3.5 ± 1.4 60 (n = 9) 40 20 -4.9 ± 0.9 > 30 0 (n = 10) 2.5 - 30 2 3 4 5 0 1 < 2.5 Time from start of a-Gal treatment (years) • 25 patients • 21 males : 31.1 ± 2.7 years • 4 females : 35.2 ± 8.3 years mean decline in GFR (ml/min/1.73 per year)

  16. ERT • double-blind • placebo controlled • median : 18.5 months • 82 patients • mean age  45 years • Pcr 141 ± 44 µmol/l Banikazemi et al., Ann Intern Med, 2007

  17. Fabry disease : onset of symptoms Branton et al., Medecine, 2002

  18. Fabry disease Tondel et al., Am J Kidney Disease, 2008

  19. ERT in children • Ries et al., Pediatrics, 2006 • Ramaswami et al., Acta Paediatrica, 2007 • Wraith et al., J Pediatr, 2008 • results • safety • normalisation of Gb3 plasma concentration • decrease in pain and gastro-intestinal symptoms • improvement of autonomic function • decrease in micro-albuminuria

  20. What can we expect from enzyme replacement on renal involvement ? Brenner et al., Curr Opin Nephrol Hypertens, 2004

  21. Acknowledgments • Département des Maladies Héréditaires du Métabolisme • Exploration Fonctionnelle rénale et métabolique • Département de Néphrologie Pédiatrique

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