Fabry’s disease

Fabry register LINK (CRISTIN)

Staff:

Camilla Tøndel, Rannveig Skrunes, Sabine Leh and Einar Svarstad

Funding:

Details of funding are here 

Publications:

1. Burlina A, Brand E, Hughes D, Kantola I, Krӓmer J, Nowak A, Tøndel C, Wanner C, Spada M. An expert consensus on the recommendations for the use of biomarkers in Fabry disease. Mol Genet Metab. 2023 Jun;139(2):107585. doi: 10.1016/j.ymgme.2023.107585. Epub 2023 Apr 17. PMID: 37207471.

2. Najafian B, Silvestroni A, Sokolovskiy A, Tøndel C, Svarstad E, Obrisca B, Ismail G, Holida MD, Mauer M. A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease. Kidney Int. 2022 Jul;102(1):173-182. doi: 10.1016/j.kint.2022.03.023. Epub 2022 Apr 26. PMID: 35483528; PMCID: PMC9233139.

3. Najafian B, Tøndel C, Svarstad E, Gubler MC, Oliveira JP, Mauer M. Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss. J Am Soc Nephrol. 2020 Apr;31(4):865-875. doi: 10.1681/ASN.2019050497. Epub 2020 Mar 3. PMID: 32127409; PMCID: PMC7191924.

4. Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. PMID: 30017653.

5. Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tøndel C, Tylki-Szymańska A, Wanner C, Germain DP. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. Mol Genet Metab. 2019 Mar;126(3):212-223. doi: 10.1016/j.ymgme.2018.04.007. Epub 2018 Apr 26. PMID: 29785937.

6. Svarstad E, Leh S, Skrunes R, Kampevold Larsen K, Eikrem Ø, Tøndel C. Bedside Stereomicroscopy of Fabry Kidney Biopsies: An Easily Available Method for Diagnosis and Assessment of Sphingolipid Deposits. Nephron. 2018;138(1):13-21. doi: 10.1159/000479751. Epub 2017 Aug 26. PMID: 28848191.

7. Skrunes R, Tøndel C, Leh S, Larsen KK, Houge G, Davidsen ES, Hollak C, van Kuilenburg ABP, Vaz FM, Svarstad E. Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease. Clin J Am Soc Nephrol. 2017 Sep 7;12(9):1470-1479. doi: 10.2215/CJN.01820217. Epub 2017 Jun 16. PMID: 28625968; PMCID: PMC5586567.

8. Suntjens E, Dreschler WA, Hess-Erga J, Skrunes R, Wijburg FA, Linthorst GE, Tøndel C, Biegstraaten M. Hearing loss in children with Fabry disease. J Inherit Metab Dis. 2017 Sep;40(5):725-731. doi: 10.1007/s10545-017-0051-5. Epub 2017 May 31. PMID: 28567540; PMCID: PMC5579138.

9. Eikrem Ø, Skrunes R, Tøndel C, Leh S, Houge G, Svarstad E, Marti HP. Pathomechanisms of renal Fabry disease. Cell Tissue Res. 2017 Jul;369(1):53-62. doi: 10.1007/s00441-017-2609-9. Epub 2017 Apr 12. PMID: 28401309.

10. Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18. PMID: 27998644.

11. Skrunes R, Svarstad E, Kampevold Larsen K, Leh S, Tøndel C. Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients. Nephrol Dial Transplant. 2017 May 1;32(5):807-813. doi: 10.1093/ndt/gfw094. PMID: 27190352.

12. Najafian B, Tøndel C, Svarstad E, Sokolovkiy A, Smith K, Mauer M. One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease. PLoS One. 2016 Apr 15;11(4):e0152812. doi: 10.1371/journal.pone.0152812. PMID: 27081853; PMCID: PMC4833322.

13. Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6. PMID: 25885911; PMCID: PMC4383065.

14. Tøndel C, Kanai T, Larsen KK, Ito S, Politei JM, Warnock DG, Svarstad E. Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria. Nephron. 2015;129(1):16-21. doi: 10.1159/000369309. Epub 2014 Dec 17. PMID: 25531941.

15. Mauer M, Glynn E, Svarstad E, Tøndel C, Gubler MC, West M, Sokolovskiy A, Whitley C, Najafian B. Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease. PLoS One. 2014 Nov 11;9(11):e112188. doi: 10.1371/journal.pone.0112188. PMID: 25386848; PMCID: PMC4227696.

16. van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, Weidemann F, Wijburg FA, Svarstad E, Hollak CE, Biegstraaten M. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Rep. 2014;17:83-90. doi: 10.1007/8904_2014_342. Epub 2014 Sep 16. PMID: 25224312; PMCID: PMC4241201.

17. van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE. Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Mol Genet Metab. 2015 Feb;114(2):242-7. doi: 10.1016/j.ymgme.2014.08.007. Epub 2014 Aug 20. PMID: 25187469.

18. Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A. Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage. JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14. PMID: 23430520; PMCID: PMC3565660.

19. Tøndel C, Bostad L, Larsen KK, Hirth A, Vikse BE, Houge G, Svarstad E. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol. 2013 Jan;24(1):137-48. doi: 10.1681/ASN.2012030316. PMID: 23274955; PMCID: PMC3537211.

20. Bertelsen AK, Tøndel C, Krohn J, Bull N, Aarseth J, Houge G, Mellgren SI, Vedeler CA. Small fibre neuropathy in Fabry disease. J Neurol. 2013 Mar;260(3):917-9. doi: 10.1007/s00415-012-6800-3. Epub 2012 Dec 21. PMID: 23263

21. Houge G, Tøndel C, Kaarbøe O, Hirth A, Bostad L, Svarstad E. Fabry or not Fabry--a question of ascertainment. Eur J Hum Genet. 2011 Nov;19(11):1111. doi: 10.1038/ejhg.2011.87. Epub 2011 May 18. PMID: 21587323; PMCID: PMC3198147.

22. Najafian B, Svarstad E, Bostad L, Gubler MC, Tøndel C, Whitley C, Mauer M. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int. 2011 Mar;79(6):663-670. doi: 10.1038/ki.2010.484. Epub 2010 Dec 15. PMID: 21160462; PMCID: PMC3640823.

23. Guest JF, Jenssen T, Houge G, Aaseboe W, Tøndel C, Svarstad E. Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. Eur J Clin Invest. 2010 Dec;40(12):1104-12. doi: 10.1111/j.1365-2362.2010.02363.x. Epub 2010 Sep 9. PMID: 21070219.

24. Tøndel C, Ramaswami U, Aakre KM, Wijburg F, Bouwman M, Svarstad E. Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate. Nephrol Dial Transplant. 2010 May;25(5):1507-13. doi: 10.1093/ndt/gfp658. Epub 2009 Dec 27. PMID: 20038520.

25. Aakre KM, Tøndel C, Brun A, Svarstad E. The MDRD equation may mask decline of glomerular filtration rate in Fabry patients with normal or nearly normal kidney function. Clin Nephrol. 2009 Feb;71(2):118-24. doi: 10.5414/cnp71118. PMID: 19203503.

26. Tøndel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis. 2008 May;51(5):767-76. doi: 10.1053/j.ajkd.2007.12.032. Epub 2008 Mar 20. Erratum in: Am J Kidney Dis. 2009 Mar;53(3):567. PMID: 18436087.

27. Svarstad E, Bostad L, Kaarbøe O, Houge G, Tøndel C, Lyngdal PT, Iversen BM. Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. Clin Nephrol. 2005 May;63(5):394-401. doi: 10.5414/cnp63394. PMID: 15909601.

28. Tøndel C, Laegreid LM, Hirth A, Houge G, Månsson JE, Søvik O. Intravenøs enzymsubstitusjonsbehandling ved Fabrys sykdom hos barn [Intravenous enzyme substitution therapy in children with Fabry's disease]. Tidsskr Nor Laegeforen. 2003 Dec 4;123(23):3388-90. Norwegian. PMID: 14713976.

Staff:

Camilla Tøndel, Rannveig Skrunes and Øystein Eikrem

Funding:

Publications:

1. Hopkin RJ, Cabrera GH, Jefferies JL, Yang M, Ponce E, Brand E, Feldt-Rasmussen U, Germain DP, Guffon N, Jovanovic A, Kantola I, Karaa A, Martins AM, Tøndel C, Wilcox WR, Yoo HW, Burlina AP, Mauer M. Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. Mol Genet Metab. 2023 Feb;138(2):106967. doi: 10.1016/j.ymgme.2022.106967. Epub 2022 Nov 30. PMID: 36709533.
2. Tøndel C, Thurberg BL, DasMahapatra P, Lyn N, Maski M, Batista JL, George K, Patel H, Hariri A. Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues. Mol Genet Metab. 2022 Dec;137(4):328-341. doi: 10.1016/j.ymgme.2022.10.005. Epub 2022 Oct 29. PMID: 36334424.
3. van der Veen SJ, Körver S, Hirsch A, Hollak CEM, Wijburg FA, Brands MM, Tøndel C, van Kuilenburg ABP, Langeveld M. Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression. Mol Genet Metab. 2022 Feb;135(2):163-169. doi: 10.1016/j.ymgme.2021.12.004. Epub 2021 Dec 17. PMID: 35033446.
4. Moreno-Martinez D, Aguiar P, Auray-Blais C, Beck M, Bichet DG, Burlina A, Cole D, Elliott P, Feldt-Rasmussen U, Feriozzi S, Fletcher J, Giugliani R, Jovanovic A, Kampmann C, Langeveld M, Lidove O, Linhart A, Mauer M, Moon JC, Muir A, Nowak A, Oliveira JP, Ortiz A, Pintos-Morell G, Politei J, Rozenfeld P, Schiffmann R, Svarstad E, Talbot AS, Thomas M, Tøndel C, Warnock D, West ML, Hughes DA. Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. Mol Genet Metab. 2021 Apr;132(4):234-243. doi: 10.1016/j.ymgme.2021.02.001. Epub 2021 Feb 20. PMID: 33642210.
5. Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymanska A, Bénichou B, Wijburg FA. Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. Mol Genet Metab. 2019 May;127(1):86-94. doi: 10.1016/j.ymgme.2019.03.010. Epub 2019 Apr 3. PMID: 30987917.
6. Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U. Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. PMID: 25955246; PMCID: PMC4425695.

Different subprojects included (CRISTIN links): 

• PB-102-F60 An open-label extension study to assess the long-term safety and efficacy of pegunigalsidase alfa (PRX-102) in patients with Fabry disease.  LINK
• LPS15919 - A randomized, open comparative study to evaluate glycosphingolipid removal and clinical effects of agalsidase beta (Fabrazyme®) in male Fabry patients who have switched treatment from migalastat (Galafold®) LINK
• Clinical Trial: A randomized, open-label study to evaluate glycosphingolipid (GL-3) removal and clinical effects of switching treatment to agalsidase beta (Fabrazyme) versus continuing treatment with agalsidase alfa (Replagal) in male patients with Fabry disease LINK
• Lucerastat-long-term treatment-ID-069A302 LINK
• MODIFY - Placebo-controlled study with oral Lucerastat monotherapy in Fabry disease LINK
• Phase 1/2 gene therapy study with AVV vector in Fabry disease LINK
• PB-102-F50:  A phase 3 open-label switch study to assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa 2 mg/kg administered intravenously every 4 weeks for 52 weeks in patients with Fabry disease currently treated with enzyme replacement therapy. BRIGHT LINK
• PB-102-F51 Long-term treatment with Unigal every 4 weeks LINK
• Protalix PB-102-F30 An open-label study of the safety and efficacy of PRX-102 in patients with Fabry disease treated with Replagal (agalsidase alfa) LINK
• PB-102-F20 - A randomized, double-blind, active-controlled study of the safety and efficacy of PRX-102 compared with agalsidase beta on renal function in patients with Fabry disease previously treated with agalsidase beta LINK
• Fabry register [TC2] LINK
• Venglustat for neuropathic and abdominal pain in men and women with Fabry disease - EFC17045 LINK

Staff:

Hans-Peter Marti, Øystein Eikrem, Jessica Furriol and Philipp Strauss

Funding:

Publications:

1. Lillås BS, Tøndel C, Melsom T, Eriksen BO, Marti HP, Vikse BE. Response to Birth Weight and Renal Functional Reserve in Adults. Kidney Int Rep. 2023 Jun 17;8(8):1700-1701. doi: 10.1016/j.ekir.2023.06.012. PMID: 37547517; PMCID: PMC10403668.
2. Lillås BS, Tøndel C, Melsom T, Eriksen BO, Marti HP, Vikse BE. Renal Functional Response-Association With Birth Weight and Kidney Volume. Kidney Int Rep. 2023 Feb 20;8(5):1034-1042. doi: 10.1016/j.ekir.2023.02.1079. PMID: 37180504; PMCID: PMC10166784.
3. Lillås BS, Tøndel C, Aßmus J, Vikse BE. Low birthweight is associated with lower glomerular filtration rate in middle-aged mainly healthy women. Nephrol Dial Transplant. 2021 Dec 31;37(1):92-99. doi: 10.1093/ndt/gfaa306. PMID: 33313893; PMCID: PMC8719610.
4. Gjerde A, Skrunes R, Reisæter AV, Marti HP, Vikse BE. Familial Contributions to the Association Between Low Birth Weight and Risk of CKD in Adult Life. Kidney Int Rep. 2021 May 30;6(8):2151-2158. doi: 10.1016/j.ekir.2021.05.032. PMID: 34386664; PMCID: PMC8343716.
5. Gjerde A, Reisæter AV, Skrunes R, Marti HP, Vikse BE. Intrauterine Growth Restriction and Risk of Diverse Forms of Kidney Disease during the First 50 Years of Life. Clin J Am Soc Nephrol. 2020 Oct 7;15(10):1413-1423. doi: 10.2215/CJN.04080320. Epub 2020 Aug 17. PMID: 32816833; PMCID: PMC7536758.
6. Gjerde A, Lillås BS, Marti HP, Reisæter AV, Vikse BE. Intrauterine growth restriction, preterm birth and risk of end-stage renal disease during the first 50 years of life. Nephrol Dial Transplant. 2020 Jul 1;35(7):1157-1163. doi: 10.1093/ndt/gfaa001. PMID: 32040151; PMCID: PMC7417009.
7. Lillås BS, Tøndel C, Gjerde A, Vikse BE. Measurement of renal functional response using iohexol clearance-a study of different outpatient procedures. Clin Kidney J. 2019 Nov 26;14(1):181-188. doi: 10.1093/ckj/sfz167. PMID: 33564417; PMCID: PMC7857819.