Gauchers Disease—A Reappraisal of Hematopoietic Stem Cell Transplantation

REFERENCES

• Desnick RJ. Gaucher disease (1882–1982): centennial perspectives on the most prevalent Jewish genetic disease. Mt Sinai J Med. 1982;49:443–455.
   PubMedGoogle Scholar
• Di Luca M, Romi R, Severini F, High levels of human chitotriosidase hinder the formation of peritrophic membrane in anopheline vectors. Parasitol Res. 2007;100:1033–1039.
   PubMedGoogle Scholar
• Malaguarnera L. Chitotriosidase: the yin and yang. Cell Mol Life Sci. 2006;63:3018–3029.
   PubMed Web of Science ®Google Scholar
• Kraoua I, Sedel F, Caillaud C, A French experience of type 3 Gaucher disease: phenotypic diversity and neurological outcome of 10 patients. Brain Dev. 2011;33:131–139.
   PubMedGoogle Scholar
• Gupta N, Oppenheim IM, Kauvar EF, Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol Dis. 2011;46:75–84.
   PubMed Web of Science ®Google Scholar
• Schmitz J, Poll LW, vom Dahl S. Therapy of adult Gaucher disease. Haematologica. 2007;92:148–152.
   PubMedGoogle Scholar
• Hollak CE, de Fost M, van Dussen L, Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose –response relationships. Expert Opin Pharmacother. 2009;10:2641–2652.
   PubMed Web of Science ®Google Scholar
• Zimran A. How I treat Gaucher disease. Blood. 2011;118:1463–1471.
   PubMed Web of Science ®Google Scholar
• Dunbar CE, Kohn DB, Schiffmann R, Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation. Hum Gene Ther. 1998;9:2629–2640.
   PubMed Web of Science ®Google Scholar
• Xu LC, Kluepfel-Stahl S, Blanco M, Growth factors and stromal support generate very efficient retroviral transduction of peripheral blood CD34+ cells from Gaucher patients. Blood. 1995;86:141–146.
   PubMed Web of Science ®Google Scholar
• Hobbs JR, Hugh-Jones K, Barrett AJ, Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet. 1981;2:709–712.
   PubMed Web of Science ®Google Scholar
• Rappeport JM, Ginns EI. Bone-marrow transplantation in severe Gaucher's disease. N Engl J Med. 1984;311:84–88.
   PubMed Web of Science ®Google Scholar
• Ringden O, Groth CG, Erikson A, Ten years’ experience of bone marrow transplantation for Gaucher disease. Transplantation. 1995;59:864–870.
   PubMed Web of Science ®Google Scholar
• Chan KW, Wong LT, Applegarth D, Davidson AG. Bone marrow transplantation in Gaucher's disease: effect of mixed chimeric state. Bone Marrow Transplant. 1994;14:327–330.
   PubMed Web of Science ®Google Scholar
• Hobbs JR, Jones KH, Shaw PJ, Beneficial effect of pre-transplant splenectomy on displacement bone marrow transplantation for Gaucher's syndrome. Lancet. 1987;1:1111–1115.
   PubMed Web of Science ®Google Scholar
• Hoogerbrugge PM, Brouwer OF, Bordigoni P, Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet. 1995;345:1398–1402.
   PubMed Web of Science ®Google Scholar
• Young E, Chatterton C, Vellodi A, Winchester B. Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase. J Inherit Metab Dis. 1997;20:595–602.
   PubMed Web of Science ®Google Scholar
• Starer F, Sargent JD, Hobbs JR. Regression of the radiological changes of Gaucher's disease following bone marrow transplantation. Br J Radiol. 1987;60:1189–1195.
   PubMed Web of Science ®Google Scholar
• Erikson A, Groth CG, Mansson JE, Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type. Acta Paediatr Scand. 1990;79:680–685.
   PubMed Web of Science ®Google Scholar
• Tsai P, Lipton JM, Sahdev I, Allogenic bone marrow transplantation in severe Gaucher disease. Pediatr Res. 1992;31:503–507.
   PubMed Web of Science ®Google Scholar
• Lucarelli G, Galimberti M, Polchi P, Marrow transplantation in patients with advanced thalassemia. N Engl J Med. 1987;316:1050-1055.
   Google Scholar
• Ringden O, Remberger M, Svahn BM, Allogeneic hematopoietic stem cell transplantation for inherited disorders: experience in a single center. Transplantation. 2006;81:718–725.
   PubMed Web of Science ®Google Scholar
• Brady RO, Pentchev PG, Gal AE, Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. N Engl J Med. 1974;291:989–993.
   PubMed Web of Science ®Google Scholar
• Barton NW, Brady RO, Dambrosia JM, Replacement therapy for inherited enzyme deficiency–macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991;324:1464–1470.
   PubMed Web of Science ®Google Scholar
• Grabowski GA, Barton NW, Pastores G, Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995;122:33–39.
   PubMed Web of Science ®Google Scholar
• Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008;122:1182–1190.
   PubMed Web of Science ®Google Scholar
• Weinreb NJ, Charrow J, Andersson HC, Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002;113:112–119.
   PubMed Web of Science ®Google Scholar
• Hollak CE, Belmatoug N, Cole JA, Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years. Br J Haematol. 2012;158:528–538.
   PubMed Web of Science ®Google Scholar
• Pastores GM, Weinreb NJ, Aerts H, Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41:4–14.
   PubMed Web of Science ®Google Scholar
• Sims KB, Pastores GM, Weinreb NJ, Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet. 2008;73:430–440.
   PubMed Web of Science ®Google Scholar
• Wenstrup RJ, Kacena KA, Kaplan P, Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res. 2007;22:119–126.
   PubMed Web of Science ®Google Scholar
• Damiano AM, Pastores GM, Ware JE, Jr. The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res. 1998;7:373–386.
   PubMed Web of Science ®Google Scholar
• Giraldo P, Solano V, Perez-Calvo JI, Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res. 2005;14:453–462.
   PubMed Web of Science ®Google Scholar
• Steinbrook R. Drug shortages and public health. N Engl J Med. 2009;361:1525–1127.
   PubMedGoogle Scholar
• Elstein D, Cohn GM, Wang N, Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease. Blood Cells Mol Dis. 2011;46:119–123.
   PubMedGoogle Scholar
• Zimran A, Altarescu G, Philips M, Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood. 2010;115:4651–4656.
   PubMed Web of Science ®Google Scholar
• Giraldo P, Alfonso P, Atutxa K, Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. Haematologica. 2009;94:1771–1775.
   PubMed Web of Science ®Google Scholar
• Pastores GM, Giraldo P, Cherin P, Mehta A. Goal-oriented therapy with miglustat in Gaucher disease. Curr Med Res Opin. 2009;25:23–37.
   PubMed Web of Science ®Google Scholar
• Somaraju UR, Tadepalli K. Hematopoietic stem cell transplantation for Gaucher disease. Cochrane Database Syst Rev. 2008:CD006974. DOI: 10.1002/14651858.CD006974.pub2.
   Google Scholar
• Somaraju UR, Tadepalli K. Hematopoietic stem cell transplantation for Gaucher disease. Cochrane Database Syst Rev. 2012;7:CD006974. DOI: 10.1002/14651858.CD006974.pub3.
   Google Scholar
• Wyatt K, Henley W, Anderson L, The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders. Health Technol Assess. 2012;16:1–543.
   PubMed Web of Science ®Google Scholar
• Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 2003;31:229–239.
   PubMed Web of Science ®Google Scholar
• Ratko TA, Belinson SE, Brown HM, Hematopoietic Stem-Cell Transplantation in the Pediatric Population. Rockville, MD: Agency for Healthcare Research and Quality (US); 2012. Available from: http://www.ncbi.nlm.nih.gov/books/NBK84626/.
   Google Scholar
• Eapen M, Ahn KW, Orchard PJ, Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism. Biol Blood Marrow Transplant. 2012;18:1438–1445.
   PubMed Web of Science ®Google Scholar
• Sodani P, Gaziev D, Polchi P, New approach for bone marrow transplantation in patients with class 3 thalassemia aged younger than 17 years. Blood. 2004;104:1201–1203.
   PubMed Web of Science ®Google Scholar
• Bernardo ME, Piras E, Vacca A, Allogeneic hematopoietic stem cell transplantation in thalassemia major: results of a reduced-toxicity conditioning regimen based on the use of treosulfan. Blood. 2012;120:473–476.
   PubMed Web of Science ®Google Scholar
• La Nasa G, Giardini C, Argiolu F, Unrelated donor bone marrow transplantation for thalassemia: the effect of extended haplotypes. Blood. 2002;99:4350–4356.
   PubMed Web of Science ®Google Scholar
• Jaing TH, Hung IJ, Yang CP, Unrelated cord blood transplantation for thalassaemia: a single-institution experience of 35 patients. Bone Marrow Transplant. 2012;47:33–39.
   PubMed Web of Science ®Google Scholar
• Li C, Wu X, Feng X, A novel conditioning regimen improves outcomes in beta-thalassemia major patients using unrelated donor peripheral blood stem cell transplantation. Blood. 2012;120:3875–3881.
   PubMed Web of Science ®Google Scholar
• Hsieh MM, Kang EM, Fitzhugh CD, Allogeneic hematopoietic stem-cell transplantation for sickle cell disease. N Engl J Med. 2009;361:2309–2317.
   PubMed Web of Science ®Google Scholar
• Hsieh MM, Fitzhugh CD, Tisdale JF. Allogeneic hematopoietic stem cell transplantation for sickle cell disease: the time is now. Blood. 2011;118:1197–1207.
   PubMed Web of Science ®Google Scholar
• Micheva I, Marinakis T, Repa C, Dendritic cells in patients with type I Gaucher disease are decreased in number but functionally normal. Blood Cells Mol Dis. 2006;36:298–307.
   PubMedGoogle Scholar
• Shlomchik WD, Couzens MS, Tang CB, Prevention of graft versus host disease by inactivation of host antigen-presenting cells. Science. 1999;285:412–415.
   PubMed Web of Science ®Google Scholar
• Merad M, Hoffmann P, Ranheim E, Depletion of host Langerhans cells before transplantation of donor alloreactive T cells prevents skin graft-versus-host disease. Nat Med. 2004;10:510–517.
   PubMed Web of Science ®Google Scholar
• Weinreb NJ, Goldblatt J, Villalobos J, Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2012. DOI: 10.1007/s10545-012-9528-4.
   PubMedGoogle Scholar
• Mitsui J, Mizuta I, Toyoda A, Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009;66:571–576.
   PubMed Web of Science ®Google Scholar
• Sidransky E, Nalls MA, Aasly JO, Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009;361:1651–1661.
   PubMed Web of Science ®Google Scholar
• Bultron G, Kacena K, Pearson D, The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis. 2010;33:167–173.
   PubMed Web of Science ®Google Scholar
• Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab. 2011;104:438–447.
   PubMedGoogle Scholar
• Rovo A, Tichelli A. Cardiovascular complications in long-term survivors after allogeneic hematopoietic stem cell transplantation. Semin Hematol. 2012;49:25–34.
   PubMedGoogle Scholar
• Tichelli A, Bucher C, Rovo A, Premature cardiovascular disease after allogeneic hematopoietic stem-cell transplantation. Blood. 2007;110:3463–3471.
   PubMed Web of Science ®Google Scholar
• Tichelli A, Passweg J, Wojcik D, Late cardiovascular events after allogeneic hematopoietic stem cell transplantation: a retrospective multicenter study of the Late Effects Working Party of the European Group for Blood and Marrow Transplantation. Haematologica. 2008;93:1203–1210.
   PubMed Web of Science ®Google Scholar
• Konopacki J, Porcher R, Robin M, Long-term follow up after allogeneic stem cell transplantation in patients with severe aplastic anemia after cyclophosphamide plus antithymocyte globulin conditioning. Haematologica. 2012;97:710–716.
   PubMed Web of Science ®Google Scholar