New prospects for the treatment of lysosomal storage diseases

Drugs
Raphael Schiffmann, R O Brady

Abstract

Although individually rare, lysosomal storage disorders constitute a significant burden on society. To date, enzyme replacement therapy (ERT) has been the most successful therapeutic approach for lysosomal storage disorders. ERT reverses systemic manifestations of Gaucher disease but does not effectively treat the neurological complications. Recently, ERT produced a reduction of severe neuropathic pain, stabilisation of renal disease, and improved vascular function and structure in short-term, placebo-controlled trials in patients with Fabry's disease. Long-term studies are necessary to evaluate the full potential of ERT in this disease. In patients with Pompe disease, a fatal cardiac and skeletal muscle disorder, ERT improved cardiac function and structure, and increased overall muscle strength. It has already increased survival in a small number of affected infants. ERT also decreased liver and spleen size, joint mobility and quality of life in patients with mucopolysaccharidosis type I, but when the therapeutic protein is administered intravenously, it is unlikely to modify the neurological outcome in this or in other similar disorders. Bone marrow transplantation continues to be effective in Gaucher disease, in some forms o...Continue Reading

References

May 25, 1967·The New England Journal of Medicine·R O BradyL Laster
Mar 27, 1995·Transplantation·O RingdénE Sparrelid
Mar 14, 1998·Baillière's Clinical Haematology·R O Brady
Mar 14, 1998·Baillière's Clinical Haematology·T M Cox, J P Schofield
Mar 14, 1998·Baillière's Clinical Haematology·A EriksonR Schiffmann
Mar 14, 1998·Baillière's Clinical Haematology·G M Pastores
Mar 14, 1998·Baillière's Clinical Haematology·J A BarrangerE Ball
Apr 17, 1998·The New England Journal of Medicine·W KrivitL A Lockman
Jan 26, 1999·JAMA : the Journal of the American Medical Association·P J MeikleW F Carey
Mar 3, 1999·Proceedings of the National Academy of Sciences of the United States of America·T M DalyM S Sands
Mar 10, 1999·Journal of Inherited Metabolic Disease·E HerskhovitzA Vellodi
May 26, 1999·Proceedings of the National Academy of Sciences of the United States of America·M JeyakumarF M Platt
Jun 17, 1999·Archives of Internal Medicine·D ElsteinA Zimran
Aug 4, 1999·Proceedings of the National Academy of Sciences of the United States of America·T YamashitaR L Proia
Jan 5, 2000·Proceedings of the National Academy of Sciences of the United States of America·R SchiffmannR O Brady
Jun 1, 2000·Bone Marrow Transplantation·C Peters, W Krivit
Jun 7, 2000·The Journal of Clinical Investigation·A AbeJ A Shayman
Sep 6, 2000·British Journal of Haematology·D ElsteinA Zimran
Sep 6, 2000·Lancet·H Van den HoutA T Van der Ploeg
Oct 24, 2000·Blood Cells, Molecules & Diseases·G AltarescuN W Barton
Nov 30, 2000·Current Treatment Options in Gastroenterology·M S Hasan, J W Smith
Dec 6, 2000·JAMA : the Journal of the American Medical Association·R O Brady, R Schiffmann
Feb 15, 2001·The New England Journal of Medicine·E D KakkisE F Neufeld
Feb 28, 2001·Proceedings of the National Academy of Sciences of the United States of America·S C JungP Qasba
Feb 28, 2001·Expert Opinion on Investigational Drugs·R H Lachmann, F M Platt
Mar 29, 2001·Molecular Therapy : the Journal of the American Society of Gene Therapy·W A FrisellaM S Sands
Apr 3, 2001·Current Treatment Options in Neurology·Edward M. Kaye
Apr 5, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·A AmalfitanoY T Chen

❮ Previous
Next ❯

Citations

Nov 17, 2011·Applied Biochemistry and Biotechnology·Girijesh Kumar PatelAshwani Kumar Sharma
Dec 20, 2003·Pediatric Neurology·J Jeffrey MalatackEliel Bayever
Dec 24, 2002·Trends in Cell Biology·David L Marks, Richard E Pagano
Feb 6, 2009·Proceedings of the National Academy of Sciences of the United States of America·Adrian P KellsKrystof S Bankiewicz
Feb 6, 2013·Proceedings of the National Academy of Sciences of the United States of America·Daren WangDao Pan
Jan 2, 2004·The American Journal of Nursing·Carol EnderlinPaula Conaway
Aug 21, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joe T R ClarkeRaphael Schiffmann
Jun 14, 2003·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Richard E Pagano
Jun 14, 2003·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Richard W E Watts
Jul 3, 2007·Pediatric Rheumatology Online Journal·Karoline EhlertJosef Vormoor
Apr 6, 2007·Journal of the American Society of Nephrology : JASN·Raphael SchiffmannMarkus Ries
Jan 6, 2004·Proceedings of the National Academy of Sciences of the United States of America·A J T SchuldtJ E Barker
Nov 16, 2002·Proceedings of the National Academy of Sciences of the United States of America·Anu R SawkarJeffery W Kelly
Mar 16, 2007·European Journal of Pediatrics·Marcelina MalinowskaGrzegorz Wegrzyn
Sep 8, 2010·Expert Review of Neurotherapeutics·Phyllis L FaustJames M Powers
Jul 26, 2003·Expert Opinion on Biological Therapy·Yiannis A IoannouCompton Benjamin
Sep 26, 2009·The Journal of Pediatrics·Ana Maria MartinsZelita Caldeira Ferreira Guedes
Jun 24, 2008·The Journal of Pediatrics·Ozlem Goker-AlpanRaphael Schiffmann
Jan 22, 2008·Surgical Neurology·Daniel RefaiJeffery R Leonard
Jan 22, 2008·Neurochemistry International·Rena C BaekThomas N Seyfried
May 19, 2007·Molecular Genetics and Metabolism·Kerry Anne McEachernJohn Marshall
Mar 24, 2005·Annals of Neurology·Russell R LonserEdward H Oldfield
Apr 17, 2004·Journal of Neurochemistry·Julie L KasperzykThomas N Seyfried
Oct 7, 2004·Biochimica Et Biophysica Acta·Sushmita Mukherjee, Frederick R Maxfield
Aug 17, 2004·Molecular Genetics and Metabolism·Peter S SavasJohn J Hopwood
Jun 15, 2004·Clinica Chimica Acta; International Journal of Clinical Chemistry·Paulina MabeErna Raimann
Nov 10, 2004·Brain & Development·Hatice Asuman Ozkara
Oct 15, 2005·Biochemical and Biophysical Research Communications·Kyun Oh LeeGary J Murray
May 27, 2008·Biochimica Et Biophysica Acta·Gert de VoerPeter E M Taschner
Apr 1, 2008·Current Therapeutic Research, Clinical and Experimental·Ewa PiotrowskaGrzegorz Wegrzyn
Feb 27, 2015·PloS One·Mariam MeghdariDavid H Calhoun
Apr 20, 2006·Arquivos de neuro-psiquiatria·Marcos C LangeCarmen M S Bonfim
Nov 2, 2004·The Journal of Biological Chemistry·Christopher C WredenRichard J Reimer

❮ Previous
Next ❯

Related Concepts

Related Feeds

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.