Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: Extension of a randomized controlled trial

Nephrology Dialysis Transplantation

Volumn 31, Issue 1, 2016, Pages 111-119

  Bissler, John J ^a   Kingswood, John Christopher ^b   Radzikowska, Elzbieta ^c   Zonnenberg, Bernard A ^d   Frost, Michael ^e   Belousova, Elena ^f   Sauter, Matthias ^g   Nonomura, Norio ^h   Brakemeier, Susanne ⁱ   De Vries, Petrus J ^j   Berkowitz, Noah ^k   Miao, Sara ^k   Segal, Scott ^k   Peyrard, Severine ^l   Budde, Klemens ⁱ  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b ROYAL SUSSEX COUNTY HOSPITAL   (United Kingdom)

^c NATIONAL TUBERCULOSIS AND LUNG DISEASES RESEARCH INSTITUTE   (Poland)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e MINNESOTA EPILEPSY GROUP   (United States)

^f Institute of Pediatrics and Children Surgery   (Russian Federation)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h OSAKA UNIVERSITY HOSPITAL   (Japan)

ⁱ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^j UNIVERSITY OF CAPE TOWN   (South Africa)

^k NOVARTIS PHARMA AG   (Switzerland)

^l NOVARTIS PHARMA K K   (Japan)

more..

Author keywords

everolimus; mTOR inhibitors; renal angiomyolipoma; sporadic lymphangioleiomyomatosis; tuberous sclerosis complex

Indexed keywords

ALKALINE PHOSPHATASE; EVEROLIMUS; LACTATE DEHYDROGENASE; PHOSPHORUS; PLACEBO; URIC ACID; ANTINEOPLASTIC AGENT;

ABDOMINAL PAIN; ABNORMAL LABORATORY RESULT; ACNE; ADOLESCENT; ADULT; ADVERSE DRUG REACTION; ALKALINE PHOSPHATASE BLOOD LEVEL; AMENORRHEA; ANGIOMYOLIPOMA; APHTHOUS STOMATITIS; ARTICLE; BACKACHE; CHILD; CONTROLLED STUDY; CONVULSION; COUGHING; DECREASED APPETITE; DIARRHEA; DISEASE SEVERITY; DOUBLE BLIND PROCEDURE; DRUG DOSE TITRATION; DRUG EFFICACY; DRUG INDUCED HEADACHE; DRUG TOLERABILITY; DRUG WITHDRAWAL; ECZEMA; FATIGUE; FEMALE; FLANK PAIN; GASTROINTESTINAL DISEASE; HUMAN; HYDROCEPHALUS; HYPERCHOLESTEROLEMIA; HYPERLIPIDEMIA; HYPERTENSION; HYPERTENSIVE CRISIS; HYPERTRIGLYCERIDEMIA; HYPOPHOSPHATEMIA; KIDNEY HEMORRHAGE; KIDNEY TUMOR; LACTATE DEHYDROGENASE BLOOD LEVEL; LEUKOPENIA; LYMPHANGIOLEIOMYOMATOSIS; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MOUTH ULCER; NAUSEA; NEPHROTIC SYNDROME; NEUTROPENIA; OPEN STUDY; OUTCOME ASSESSMENT; OVARY CYST; PANCREAS CARCINOMA; PARTIAL THROMBOPLASTIN TIME; PERIPHERAL EDEMA; PHASE 3 CLINICAL TRIAL; PHOSPHATE BLOOD LEVEL; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; PRURITUS; RANDOMIZED CONTROLLED TRIAL; RENAL ANGIOMYOLIPOMA; RHABDOMYOLYSIS; RHINITIS; RHINOPHARYNGITIS; SCHOOL CHILD; SIDE EFFECT; SINUSITIS; SPORADIC LYMPHANGIOLEIOMYOMATOSIS; STOMATITIS; TREATMENT DURATION; TREATMENT RESPONSE; TUBEROUS SCLEROSIS; TUBEROUS SCLEROSIS COMPLEX; TUMOR VOLUME; UPPER RESPIRATORY TRACT INFECTION; URIC ACID BLOOD LEVEL; URINARY TRACT INFECTION; VOMITING; YOUNG ADULT; CLINICAL TRIAL; DISEASE FREE SURVIVAL; DRUG EFFECTS; KAPLAN MEIER METHOD; KIDNEY; KIDNEY NEOPLASMS; MULTICENTER STUDY; PATHOLOGY; TREATMENT OUTCOME;

ADOLESCENT; ADULT; ANGIOMYOLIPOMA; ANTINEOPLASTIC AGENTS; DISEASE-FREE SURVIVAL; DOUBLE-BLIND METHOD; EVEROLIMUS; FEMALE; HUMANS; KAPLAN-MEIER ESTIMATE; KIDNEY; KIDNEY NEOPLASMS; LYMPHANGIOLEIOMYOMATOSIS; MALE; MIDDLE AGED; TREATMENT OUTCOME; TUBEROUS SCLEROSIS; TUMOR BURDEN; YOUNG ADULT;

EID: 84960128968     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfv249     Document Type: Article

References (54)

1. Franz DN. Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis. Expert Rev Anticancer Ther 2011; 11: 1181-1192
2. Anlauf M, Garbrecht N, Bauersfeld J, et al. Hereditary neuroendocrine tumors of the gastroenteropancreatic system. Virchows Arch 2007; 451 (Suppl. 1): S29-S38
3. Baskin HJ, Jr. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol 2008; 38: 936-952
4. Jozwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol 2000; 15: 652-659
5. Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatr 2011; 127: e117-e125
6. Borkowska J, Schwartz RA, Kotulska K, et al. Tuberous sclerosis complex: tumors and tumorigenesis. Int J Dermatol 2011; 50: 13-20
7. Sancak O, Nellist M, Goedbloed M, et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype: phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet 2005; 13: 731-741
8. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68: 64-80
9. van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277: 805-808
10. European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-1315
11. Budde K, Gaedeke J. Tuberous sclerosis complex-Associated angiomyolipomas: focus on mTOR inhibition. Am J Kidney Dis 2012; 59: 276-283
12. Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatr 2010; 41: 199-208
13. Rakowski SK, Winterkorn EB, Paul E, et al. Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors. Kidney Int 2006; 70: 1777-1782
14. O'Callaghan FJ, Noakes MJ, Martyn CN, et al. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int 2004; 94: 853-857
15. Ewalt DH, Sheffield E, Sparagana SP, et al. Renal lesion growth in children with tuberous sclerosis complex. J Urol 1998; 160: 141-145
16. Cook JA, Oliver K, Mueller RF, et al. A cross sectional study of renal involvement in tuberous sclerosis. J Med Genet 1996; 33: 480-484
17. Zimmerhackl LB, Rehm M, Kaufmehl K, et al. Renal involvement in tuberous sclerosis complex: a retrospective survey. Pediatr Nephrol 1994; 8: 451-457
18. Siroky BJ, Yin H, Dixon BP, et al. Evidence for pericyte origin of TSC-Associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy. Am J Physiol Renal Physiol 2014; 307: F560-F570
19. Wagner BJ, Wong-You-Cheong JJ, Davis CJ, Jr. Adult renal hamartomas. Radiographics 1997; 17: 155-169
20. Yamakado K, Tanaka N, Nakagawa T, et al. Renal angiomyolipoma: relationships between tumor size, aneurysm formation, and rupture. Radiol 2002; 225: 78-82
21. Bissler JJ, Kingswood JC. Renal angiomyolipomata. Kidney Int 2004; 66: 924-934
22. Kessler OJ, Gillon G, Neuman M, et al. Management of renal angiomyolipoma: analysis of 15 cases. Eur Urol 1998; 33: 572-575
23. Schillinger F, Montagnac R. Chronic renal failure and its treatment in tuberous sclerosis. Nephrol Dial Transplant 1996; 11: 481-485
24. Sarraf M, Masoumi A, Castro-Silva FJ, et al. A case of tuberous sclerosis complex that progressed to end-stage renal disease. Nat Clin Pract Nephrol 2009; 5: 172-176
25. Clarke A, Hancock E, Kingswood Cet al. End-stage renal failure in adultswith the tuberous sclerosis complex. Nephrol Dial Transplant 1999; 14: 988-991
26. Shepherd CW, Gomez MR, Lie JT, et al. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66: 792-796
27. Franz DN, Brody A, Meyer C, et al. Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 2001; 164: 661-668
28. Costello LC, Hartman TE, Ryu JH. High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc 2000; 75: 591-594
29. Astrinidis A, Khare L, Carsillo T, et al. Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. J Med Genet 2000; 37: 55-57
30. Dwyer JM, Hickie JB, Garvan J. Pulmonary tuberous sclerosis. Report of three patients and a review of the literature. Q J Med 1971; 40: 115-125
31. Henske EP, McCormack FX. Lymphangioleiomyomatosis-A wolf in sheep's clothing. J Clin Invest 2012; 122: 3807-3816
32. Ryu JH, Moss J, Beck GJ, et al. The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment. Am J Respir Crit Care Med 2006; 173: 105-111
33. Qin W, Bajaj V, Malinowska I, et al. Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS ONE 2011; 6: e24919
34. Smolarek TA, Wessner LL, McCormack FX, et al. Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. Am J Hum Genet 1998; 62: 810-815
35. Carsillo T, Astrinidis A, Henske EP. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci USA 2000; 97: 6085-6090
36. Badri KR, Gao L, Hyjek E, et al. Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis. Am J Respir Crit Care Med 2013; 187: 663-665
37. Krueger DA, Northrup H. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013; 49: 255-265
38. Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet 2013; 381: 817-824
39. Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet 2013; 381: 125-132
40. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-628
41. Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol 2000; 57: 662-665
42. National Cancer Institute. Common Terminology Criteria for Adverse Events v3.0 (CTCAE). 2006. http://ctep.cancer.gov/protocolDevelopment/electronic-applications/docs/ctcaev3.pdf (10 October 2014, date last accessed
43. Kingswood JC, Doyle T, Cox J, et al. The Natural history of renal angiomyolipomata (AMLs) in Tuberous Sclerosis Complex (TSC). In: Poster presented at 49th ERA-EDTA Congress, Paris, France, 24-27 May 2012
44. Krueger DA, Care MM, Holland K, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 2010; 363: 1801-1811
45. Krueger DA, Care MM, Agricola K, et al. Everolimus long-Term safety and efficacy in subependymal giant-cell astrocytoma. Neurol 2013; 80: 574-580
46. Sooriakumaran P, Gibbs P, Coughlin G, et al. Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated. BJU Int 2010; 105: 101-106
47. Boorjian SA, Frank I, Inman B, et al. The role of partial nephrectomy for themanagement of sporadic renal angiomyolipoma.Urol 2007; 70: 1064-1068
48. Mabasa VH, Ensom MH. The role of therapeutic monitoring of everolimus in solid organ transplantation. Ther Drug Monit 2005; 27: 666-676
49. Moes DJ, Press RR, den Hartigh J, et al. Population pharmacokinetics and pharmacogenetics of everolimus in renal transplant patients. Clin Pharmacokinet 2012; 51: 467-480
50. Teague TK, Munn L, Zygourakis K, et al. Analysis of lymphocyte activation and proliferation by video microscopy and digital imaging. Cytometry 1993; 14: 772-782
51. Siroky BJ, Yin H, Babcock JT, et al. Human TSC-Associated renal angiomyolipoma cells are hypersensitive to ER stress. Am J Physiol Renal Physiol 2012; 303: F831-F844
52. Cina DP, Onay T, Paltoo A, et al. Inhibition of MTOR disrupts autophagic flux in podocytes. J Am Soc Nephrol 2012; 23: 412-420
53. Abbate M, Zoja C, Remuzzi G. How does proteinuria cause progressive renal damage?. J Am Soc Nephrol 2006; 17: 2974-2984
54. Hemmelgarn BR, Manns BJ, Lloyd A, et al. Relation between kidney function, proteinuria, and adverse outcomes. JAMA 2010; 303: 423-429