Lumasiran: expanding the treatment options for patients with primary hyperoxaluria type 1

References

• Cochat P, Hulton SA, Acquaviva C, et al. Primary hyperoxaluria type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant. 2012 May;27(5):1729–1736.
   PubMed Web of Science ®Google Scholar
• Purdue PE, Takada Y, Danpure CJ. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol. 1990 Dec;111(6 Pt 1):2341–2351.
   PubMed Web of Science ®Google Scholar
• Cochat P, Deloraine A, Rotily M, et al. Epidemiology of primary hyperoxaluria type 1. Societe de Nephrologie and the Societe de Nephrologie Pediatrique. Nephrol Dial Transplant. 1995;10(Suppl 8):3–7.
   PubMedGoogle Scholar
• Van Woerden CS, Groothoff JW, Wanders RJ, et al. Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant. 2003 Feb;18(2):273–279.
   PubMed Web of Science ®Google Scholar
• Van der Hoeven SM, Van Woerden CS, Groothoff JW. Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. Nephrol Dial Transplant. 2012 Oct;27(10):3855–3862.
   PubMed Web of Science ®Google Scholar
• Hopp K, Cogal AG, Bergstralh EJ, et al. Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol. 2015 Oct;26(10):2559–2570.
   PubMed Web of Science ®Google Scholar
• Harambat J, Fargue S, Bacchetta J, et al. Primary hyperoxaluria. Int J Nephrol. 2011;2011:864580.
   PubMedGoogle Scholar
• Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int. 2009 Jun;75(12):1264–1271.
   PubMed Web of Science ®Google Scholar
• Cramer SD, Ferree PM, Lin K, et al. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet. 1999 Oct;8(11):2063–2069.
   PubMed Web of Science ®Google Scholar
• Belostotsky R, Seboun E, Idelson GH, et al. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet. 2010 Sep 10;87(3):392–399.
   PubMed Web of Science ®Google Scholar
• Belostotsky R, Pitt JJ, Frishberg Y. Primary hyperoxaluria type III: a model for studying perturbations in glyoxylate metabolism. J Mol Med (Berl). 2012 Dec;90(12):1497–1504.
   PubMedGoogle Scholar
• Salido E, Pey AL, Rodriguez R, et al. Primary hyperoxalurias: disorders of glyoxylate detoxification. Biochim Biophys Acta. 2012 Sep;1822(9):1453–1464.
   PubMed Web of Science ®Google Scholar
• Cochat P, Rumsby G, Ingelfinger JR. Primary hyperoxaluria. N Engl J Med. 2013 Aug 15;369(7):649–658.
   PubMed Web of Science ®Google Scholar
• Lieske JC, Monico CG, Holmes WS, et al. International registry for primary hyperoxaluria. Am J Nephrol. 2005 May-Jun;25(3):290–296.
   PubMed Web of Science ®Google Scholar
• Wuhl E, Van Stralen KJ, Wanner C, et al. Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA registry. Nephrol Dial Transplant. 2014 Sep;29(Suppl 4):iv1–8.
   PubMedGoogle Scholar
• Harambat J, Van Stralen KJ, Espinosa L, et al. Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy. Clin J Am Soc Nephrol. 2012 Mar;7(3):458–465.
   PubMed Web of Science ®Google Scholar
• Abumwais JQ. Etiology of chronic renal failure in Jenin district, Palestine. Saudi J Kidney Dis Transpl. 2012 Jan;23(1):158–161.
   PubMedGoogle Scholar
• Kamoun A, Chakroun D, Bejaoui M. Primary hyperoxaluria: a frequent cause of renal failure in Tunisian childhood. Pediatr Nephrol. 1991Nov;5(6):762. PMID: 1768592.
   PubMedGoogle Scholar
• Van Woerden CS, Groothoff JW, Wijburg FA, et al. Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int. 2004 Aug;66(2):746–752.
   PubMedGoogle Scholar
• Mandrile G, Van Woerden CS, Berchialla P, et al. Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int. 2014 Dec;86(6):1197–1204.
   PubMed Web of Science ®Google Scholar
• Metry EL, Van Dijk LMM, Peters-Sengers H, et al. Transplantation outcomes in patients with primary hyperoxaluria: a systematic review. Pediatr Nephrol. 2021 Aug;36(8):2217–2226.
   PubMedGoogle Scholar
• Horoub R, Shamsaeefar A, Dehghani M, et al. Liver transplant for primary hyperoxaluria type 1: results of sequential, combined liver and kidney, and preemptive liver transplant. Exp Clin Transplant. 2021 May;19(5):445–449.
   PubMedGoogle Scholar
• Compagnon P, Metzler P, Samuel D, et al. Long-term results of combined liver-kidney transplantation for primary hyperoxaluria type 1: the French experience. Liver Transpl. 2014 Dec;20(12):1475–1485.
   PubMedGoogle Scholar
• European Commission. Commission implementing decision of 19.11.20 granting marketing authorisation under Regulation (EC) No 726/2004 of the European Parliament and of the Council for Oxlumo-lumasiran, an orphan medicinal product for human use; 2020 [cited 2021 Sept 13]. Available from: https://ec.europa.eu/health/documents/community-register/html/h1496.htm
   Google Scholar
• US Food and Drug Administration (FDA). FDA approves first drug to treat rare metabolic disorder; 2020 [cited 2021 Sept 13]. Available from: https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-treat-rare-metabolic-disorder?utm_medium=email&utm_source=govdelivery
   Google Scholar
• Holmes RP, Assimos DG. Glyoxylate synthesis, and its modulation and influence on oxalate synthesis. J Urol. 1998 Nov;160(5):1617–1624.
   PubMedGoogle Scholar
• Hulton SA. The primary hyperoxalurias: a practical approach to diagnosis and treatment. Int J Surg. 2016 Dec;36(Pt D):649–654.
   PubMedGoogle Scholar
• Marangella M, Petrarulo M, Vitale C, et al. Serum calcium oxalate saturation in patients on maintenance haemodialysis for primary hyperoxaluria or oxalosis-unrelated renal diseases. Clin Sci (Lond). 1991 Oct;81(4):483–490.
   PubMed Web of Science ®Google Scholar
• Schepers MS, Van Ballegooijen ES, Bangma CH, et al. Oxalate is toxic to renal tubular cells only at supraphysiologic concentrations. Kidney Int. 2005 Oct;68(4):1660–1669.
   PubMed Web of Science ®Google Scholar
• Williams EL, Acquaviva C, Amoroso A, et al. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat. 2009 Jun;30(6):910–917.
   PubMed Web of Science ®Google Scholar
• Rumsby G, Williams E, Coulter-Mackie M. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int. 2004 Sep;66(3):959–963.
   PubMedGoogle Scholar
• Danpure CJ, Cooper PJ, Wise PJ, et al. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. J Cell Biol. 1989 Apr;108(4):1345–1352.
   PubMedGoogle Scholar
• Fargue S, Lewin J, Rumsby G, et al. Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine: glyoxylateaminotransferase encoded by the polymorphic minor allele. J Biol Chem. 2013 Jan 25;288(4):2475–2484.
   PubMed Web of Science ®Google Scholar
• Danpure CJ. Primary hyperoxaluria: from gene defects to designer drugs?. Nephrol Dial Transplant. 2005 Aug;20(8):1525–1529.
   PubMedGoogle Scholar
• Fargue S, Rumsby G, Danpure CJ. Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1. Biochim Biophys Acta. 2013 Oct;1832(10):1776–1783.
   PubMed Web of Science ®Google Scholar
• Monico CG, Rossetti S, Olson JB, et al. Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int. 2005 May;67(5):1704–1709.
   PubMed Web of Science ®Google Scholar
• Harambat J, Fargue S, Acquaviva C, et al. Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010 Mar;77(5):443–449.
   PubMed Web of Science ®Google Scholar
• Soliman NA, Nabhan MM, Abdelrahman SM, et al. Clinical spectrum of primary hyperoxaluria type 1: experience of a tertiary center. Nephrol Ther. 2017 May;13(3):176–182.
   PubMedGoogle Scholar
• Naderi G, Tabassomi F, Latif A, et al. Primary hyperoxaluria type 1 diagnosed after kidney transplantation: the importance of pre-transplantation metabolic screening in recurrent urolithiasis. Saudi J Kidney Dis Transpl. 2015 Jul-Aug;26(4):783–785.
   PubMedGoogle Scholar
• Sikora P, Zaniew M, Grenda R, et al. Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland. Pol Arch Intern Med. 2020 Dec 22;130(12):1053–1063.
   PubMedGoogle Scholar
• Mookadam F, Smith T, Jiamsripong P, et al. Cardiac abnormalities in primary hyperoxaluria. Circ J. 2010 Nov;74(11):2403–2409.
   PubMedGoogle Scholar
• Leumann E, Hoppe B. The primary hyperoxalurias. J Am Soc Nephrol. 2001 Sep;12(9):1986–1993.
   PubMedGoogle Scholar
• Birtel J, Herrmann P, Garrelfs SF, et al. The ocular phenotype in primary hyperoxaluria type 1. Am J Ophthalmol. 2019 Oct;206:184–191.
   PubMedGoogle Scholar
• El Hage S, Ghanem I, Baradhi A, et al. Skeletal features of primary hyperoxaluria type 1, revisited. J Child Orthop. 2008 Jun;2(3):205–210.
   PubMedGoogle Scholar
• Fargue S, Harambat J, Gagnadoux MF, et al. Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. Kidney Int. 2009 Oct;76(7):767–773.
   PubMed Web of Science ®Google Scholar
• Marangella M, Petrarulo M, Cosseddu D, et al. Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria. Am J Kidney Dis. 1992 Jun;19(6):546–553.
   PubMed Web of Science ®Google Scholar
• Hoppe B, Graf D, Offner G, et al. Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure. Pediatr Nephrol. 1996 Aug;10(4):488–492.
   PubMed Web of Science ®Google Scholar
• Yamauchi T, Quillard M, Takahashi S, et al. Oxalate removal by daily dialysis in a patient with primary hyperoxaluria type 1. Nephrol Dial Transplant. 2001 Dec;16(12):2407–2411.
   PubMedGoogle Scholar
• Plumb TJ, Swee ML, Fillaus JA. Nocturnal home hemodialysis for a patient with type 1 hyperoxaluria. Am J Kidney Dis. 2013 Dec;62(6):1155–1159.
   PubMed Web of Science ®Google Scholar
• Metry EL, Garrelfs SF, Peters-Sengers H, et al. Long-term transplantation outcomes in patients with primary hyperoxaluria type 1 included in the European hyperoxaluria consortium (OxalEurope) registry. Kidney Int. 2021;In press.
   Google Scholar
• Gambello MJ, Li H. Current strategies for the treatment of inborn errors of metabolism. J Genet Genomics. 2018 Feb 20;45(2):61–70.
   PubMedGoogle Scholar
• Martin-Higueras C, Luis-Lima S, Salido E. Glycolate oxidase is a safe and efficient target for substrate reduction therapy in a mouse model of primary hyperoxaluria type I. Mol Ther. 2016 Apr;24(4):719–725.
   PubMed Web of Science ®Google Scholar
• Lai C, Pursell N, Gierut J, et al. Specific inhibition of hepatic lactate dehydrogenase reduces oxalate production in mouse models of primary hyperoxaluria. Mol Ther. 2018 Aug 1;26(8):1983–1995.
   PubMed Web of Science ®Google Scholar
• Hoppe B, Koch A, Cochat P, et al. Safety, pharmacodynamics, and exposure-response modeling results from a first in human phase 1 study of nedosiran in primary hyperoxaluria. Kidney Int. 2021 Sep 2. DOI:https://doi.org/10.1016/j.kint.2021.08.015.
   Google Scholar
• Ariceta G, Barrios K, Brown BD, et al. Hepatic lactate dehydrogenase A: an RNA interference target for the treatment of all known types of primary hyperoxaluria. Kidney Int Rep. 2021 Apr;6(4):1088–1098.
   PubMedGoogle Scholar
• Rumsby G, Hulton SA. From pathogenesis to novel therapies in primary hyperoxaluria. Expert Opin Orphan Drugs. 2019;7(2):57–66.
   Web of Science ®Google Scholar
• Hu B, Zhong L, Weng Y, et al. Therapeutic siRNA: state of the art. Signal Transduct Target Ther. 2020 Jun 19;5(1):101.
   PubMed Web of Science ®Google Scholar
• Damase TR, Sukhovershin R, Boada C, et al. The limitless future of RNA therapeutics. Front Bioeng Biotechnol. 2021;9:628137.
   PubMed Web of Science ®Google Scholar
• European Medicines Agency. Oxlumo 94.5 mg/0.5 mL solution for injection: summary of product characteristics; 2020 [cited 2021 Sept 13]. Available from: https://ec.europa.eu/health/documents/community-register/2020/20201119149780/anx_149780_en.pdf
   Google Scholar
• Alnylam. Oxlumo (lumasiran) injection, for subcutaneous use: US prescribing information; 2020 [cited 2021 Sept 13]. Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/214103lbl.pdf
   Google Scholar
• Roggenbuck D, Mytilinaiou MG, Lapin SV, et al. Asialoglycoprotein receptor (ASGPR): a peculiar target of liver-specific autoimmunity. Auto Immun Highlights. 2012 Dec;3(3):119–125.
   PubMedGoogle Scholar
• Liebow A, Li X, Racie T, et al. An investigational RNAi therapeutic targeting glycolate oxidase reduces oxalate production in models of primary hyperoxaluria. J Am Soc Nephrol. 2017 Feb;28(2):494–503.
   PubMed Web of Science ®Google Scholar
• Li X, Knight J, Fargue S, et al. Metabolism of (13) C5-hydroxyproline in mouse models of primary hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenase. Biochim Biophys Acta. 2016 Feb;1862(2):233–239.
   PubMed Web of Science ®Google Scholar
• Dutta C, Avitahl-Curtis N, Pursell N, et al. Inhibition of glycolate oxidase with dicer-substrate siRNA reduces calcium oxalate deposition in a mouse model of primary hyperoxaluria type 1. Mol Ther. 2016 Apr;24(4):770–778.
   PubMed Web of Science ®Google Scholar
• McGregor TL, Hunt KA, Yee E, et al. Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria. Elife. 2020 Mar 24;9. DOI:https://doi.org/10.7554/eLife.54363
   Google Scholar
• Frishberg Y, Zeharia A, Lyakhovetsky R, et al. Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria. J Med Genet. 2014 Aug;51(8):526–529.
   PubMedGoogle Scholar
• Frishberg Y, Deschenes G, Groothoff JW, et al. Phase 1/2 study of lumasiran for treatment of primary hyperoxaluria type 1: a placebo-controlled randomized clinical trial. Clin J Am Soc Nephrol. 2021 May 13;16(7):1025–1036.
   PubMed Web of Science ®Google Scholar
• Frishberg Y, Hulton SA, Cochat P, et al. Results from the ongoing Phase 2 open label extension study of lumasiran, an investigational RNAi therapeutic in patients with primary hyperoxaluria type 1 [Abstract]. J Am Soc Nephrol. 2020;31:520–521.
   Google Scholar
• Frishberg Y, Hulton SA, Cochat G, et al. Results from the ongoing phase 2 open-label extension study of lumasiran, an investigational RNAi therapeutic, in patients with primary hyperoxaluria type 1 (PH1); 2020 [cited 2021 Sept 13]. Available from: https://www.alnylam.com/wp-content/uploads/2020/10/Luma-ASN-2020_Phase-2-OLE.pdf
   Google Scholar
• Garrelfs SF, Frishberg Y, Hulton SA, et al. Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1. N Engl J Med. 2021 Apr 1;384(13):1216–1226.
   PubMed Web of Science ®Google Scholar
• Deschenes G, Cochat G, Magen D, et al. ILLUMINATE-B, a phase 3 open-label study to evaluate lumasiran, an RNAi therapeutic, in young children with primary hyperoxaluria type 1 (PH1) [Abstract]. J Am Soc Nephrol. 2020;31:515.
   Google Scholar
• Deschenes G, Cochat P, and Magen D, et al. ILLUMINATE-B, a Phase 3 open-label study to evaluate lumasiran, an RNAi therapeutic in young children with primary hyperoxaluria type 1. 2020 [cited 13 Sept 2021]. Available from: https://www.alnylam.com/wp-content/uploads/2020/10/Luma-ASN-2020_ILLUMINATE-B-6m.pdf .
   Google Scholar
• Alnylam. Alnylam reports positive topline results from ILLUMINATE-C phase 3 study of lumasiran in patients with advanced primary hyperoxaluria type 1; 2021 [ cited 2021 Sept 13]. Available from: https://investors.alnylam.com/press-release?id=25891
   Google Scholar