Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

The New England Journal of Medicine
John J BisslerDavid N Franz

Abstract

Angiomyolipomas in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis are associated with mutations in tuberous sclerosis genes resulting in constitutive activation of the mammalian target of rapamycin (mTOR). The drug sirolimus suppresses mTOR signaling. We conducted a 24-month, nonrandomized, open-label trial to determine whether sirolimus reduces the angiomyolipoma volume in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis. Sirolimus was administered for the first 12 months only. Serial magnetic resonance imaging of angiomyolipomas and brain lesions, computed tomography of lung cysts, and pulmonary-function tests were performed. Of the 25 patients enrolled, 20 completed the 12-month evaluation, and 18 completed the 24-month evaluation. The mean (+/-SD) angiomyolipoma volume at 12 months was 53.2+/-26.6% of the baseline value (P<0.001) and at 24 months was 85.9+/-28.5% of the baseline value (P=0.005). At 24 months, five patients had a persistent reduction in the angiomyolipoma volume of 30% or more. During the period of sirolimus therapy, among patients with lymphangioleiomyomatosis, the mean forced expiratory volume in 1 second (FEV1) increased by 118+/-330 ml (...Continue Reading

References

Aug 1, 1991·Mayo Clinic Proceedings·C W ShepherdC S Crowson
Sep 1, 1995·American Journal of Respiratory and Critical Care Medicine
Jul 15, 1996·International Journal of Radiation Oncology, Biology, Physics·N A MayrW T Yuh
Dec 23, 1998·Clinical Endocrinology·J P Monson
Dec 29, 1998·Transplantation Proceedings·C BrattströmC G Groth
Jan 9, 1999·Journal of Child Neurology·E S RoachH Northrup
Mar 24, 1999·Journal of the National Cancer Institute·K JamesP Therasse
May 18, 2000·Archives of Neurology·M H Hyman, V H Whittemore
May 24, 2000·Proceedings of the National Academy of Sciences of the United States of America·T CarsilloE P Henske
Aug 30, 2001·Radiology·V M Gylys-MorinM H Passo
Aug 28, 2002·The Annals of Pharmacotherapy·Jane M Guilbeau
Nov 2, 2002·American Journal of Respiratory and Critical Care Medicine·Magdalena KarbowniczekElizabeth Petri Henske
Apr 26, 2003·American Journal of Respiratory and Critical Care Medicine·Dina BrooksWilliam J Gibbons
Aug 13, 2003·Kidney International·Arlene B ChapmanUNKNOWN Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort
May 4, 2004·Nature Reviews. Cancer·Mary-Ann Bjornsti, Peter J Houghton
Aug 26, 2004·Kidney International·John J Bissler, J Chris Kingswood
Nov 26, 2004·Journal of Child Neurology·E Steve Roach, Steven P Sparagana
Dec 30, 2004·Nature Genetics·Ken InokiKun-Liang Guan
Feb 25, 2005·Annals of Oncology : Official Journal of the European Society for Medical Oncology·S VignotE Raymond
Jul 7, 2005·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Evanthia GalanisUNKNOWN North Central Cancer Treatment Group
Oct 8, 2005·American Journal of Respiratory and Critical Care Medicine·Jay H RyuUNKNOWN NHLBI LAM Registry Group
Feb 3, 2006·Annals of Neurology·David Neal FranzKerry R Crone
Feb 14, 2006·Cell·Stephan WullschlegerMichael N Hall
Aug 26, 2006·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Ralf WieneckeMatthias Kretzler
Nov 1, 2006·Cancer Control : Journal of the Moffitt Cancer Center·Angelo M Taveira-DaSilvaJoel Moss
Jan 16, 2007·European Journal of Internal Medicine·Isabelle HerryBruno Crestani

❮ Previous
Next ❯

Citations

Apr 17, 2008·Pediatric Radiology·Henry J Baskin
Jan 29, 2013·Cardiovascular and Interventional Radiology·S M GregoryU Patel
Nov 19, 2009·European Radiology·Anne-Kristin PossekelSandra Pauls
Feb 10, 2011·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Romina MoaveroPaolo Curatolo
Feb 7, 2013·Acta Neuropathologica·Peter B Crino
Apr 15, 2008·Lung·Dimitrios Chorianopoulos, Grigoris Stratakos
Dec 15, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Brian J SirokyJohn J Bissler
Oct 12, 2012·International Urology and Nephrology·Michael StaehlerMichael Fischereder
Aug 29, 2012·Internal and Emergency Medicine·Giovanni StalloneGiuseppe Grandaliano
May 1, 2012·Current Neurology and Neuroscience Reports·David Neal Franz, Brian D Weiss
Apr 6, 2011·Current Treatment Options in Neurology·Cynthia J Campen, Brenda E Porter
Jul 16, 2013·Current Treatment Options in Neurology·Darcy A Krueger
Nov 28, 2012·Hormones & Cancer·Stephen R Hammes, Vera P Krymskaya
Feb 26, 2013·Cancer Treatment Reviews·Sumanta K Pal, David I Quinn
Jul 21, 2010·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Petrus J de Vries
Apr 14, 2009·Lancet·Paolo CravediGiuseppe Remuzzi
Jun 23, 2009·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Ruifang MiHongbing Zhang
Jan 12, 2012·Expert Reviews in Molecular Medicine·Simon M SchultzeOliver Tschopp
Sep 11, 2008·European Journal of Human Genetics : EJHG·Gideon M Blumenthal, Phillip A Dennis
Dec 9, 2008·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Marco ChilosiFranco Bonetti
Aug 30, 2011·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Guido MartignoniMaurizio Pea
Feb 26, 2009·Nature Clinical Practice. Nephrology·Brian J SirokyJohn J Bissler
Jan 29, 2009·Nature Clinical Practice. Nephrology·Mohammad SarrafRobert W Schrier
Mar 7, 2009·Nature Clinical Practice. Urology·Ilene Y Wong, Linda D Shortliffe
Jun 8, 2013·Nature Medicine·Richard DelormeThomas Bourgeron
Oct 30, 2013·Nature Neuroscience·Mauro Costa-Mattioli, Lisa M Monteggia
Jul 25, 2009·Nature Reviews. Cancer·David B Shackelford, Reuben J Shaw
Mar 25, 2011·Nature Reviews. Cancer·M Christine HollanderPhillip A Dennis
Jul 15, 2011·Nature Reviews. Cancer·Barry S TaylorMarc Ladanyi
Mar 18, 2010·Nature Reviews. Clinical Oncology·Janet Dancey
Jan 30, 2013·Nature Reviews. Clinical Oncology·Sook Ryun ParkShivaani Kummar
Nov 1, 2011·Nature Reviews. Drug Discovery·Don BenjaminMichael N Hall
Oct 2, 2013·Nature Reviews. Drug Discovery·Anirvan GhoshLuca Santarelli
Dec 4, 2009·Oncogene·S Menon, B D Manning
May 3, 2008·The New England Journal of Medicine·Jim J EganPaul Corris
Jan 11, 2008·The New England Journal of Medicine·Elahna Paul, Elizabeth Thiele
Mar 18, 2011·The New England Journal of Medicine·Julie R Ingelfinger, Jeffrey M Drazen
Nov 5, 2010·The New England Journal of Medicine·Darcy A KruegerDavid Neal Franz
Mar 18, 2011·The New England Journal of Medicine·Francis X McCormackUNKNOWN MILES Trial Group
Jul 27, 2012·The New England Journal of Medicine·Sylvie EuvrardUNKNOWN TUMORAPA Study Group
Jun 23, 2009·Proceedings of the National Academy of Sciences of the United States of America·David B ShackelfordReuben J Shaw
Feb 18, 2011·Proceedings of the National Academy of Sciences of the United States of America·Qian SunHongbing Zhang
Jul 13, 2011·Proceedings of the National Academy of Sciences of the United States of America·Andrey ParkhitkoElizabeth Petri Henske

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

The New England Journal of Medicine
Francis X McCormackMILES Trial Group
The New England Journal of Medicine
Peter B CrinoElizabeth P Henske
© 2021 Meta ULC. All rights reserved