Advanced search
Publication Cover
Expert Opinion on Investigational Drugs Volume 11, 2002 - Issue 10
Submit an article Journal homepage
188
Views
30
CrossRef citations to date
0
Altmetric
Review

Fabry disease: recent advances in enzyme replacement therapy

Dominique P Germain Department of Genetics, Hôpital Européen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
Pages 1467-1476 | Published online: 24 Feb 2005

Bibliography

  • BRADY RO, GAL AE, BRADLEY RM, MARTENSSON E, WARSHAW AL, LASTER L: Enzymatic defect in Fabry's disease: ceramide-trihexosidase deficiency. N Engl. J. Med (1967) 276:1163–1167.
  • KINT JA: Fabry's disease: alpha-galactosidase deficiency. Science (1970) 167:1268–1269.
  • FABRY J: EM Beitrag zur Kenntnis der Purpura haemorragica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch. Dermatol Syphilol. (1898) 43:187–200.
  • ANDERSON W: A case of 'Angelo-keratoma'. Br: J. Dermatol. (1898) 10:113–117.
  • SWEELEY CC, KLIONSKY B: Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. I. Biol. Chem. (1963) 238:3148–3150.
  • WEINREB NJ, BRADY RO, TAPPEL AL:The lysosomal localization of sphingolipid hydrolases. Biochem. Biophys. Acta (1968) 159:141–146.
  • ALTARESCU G, MOORE DF, PURSLEYR et al.: Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke (2001) 32:1559–1562.
  • BOUTOUYRIE P, LAURENT S, LALOUXB, LID OVE 0, GRUNFELD JP, GERMAIN DP: Non-invasive evaluation of arterial involvement in patients affected with Fabry disease. Med. Genet (2001) 38:629–631.
  • VON SCHEIDT W, ENG CM, FITZMAURICE TF et al.: An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl. I Med. (1991) 324:395–399.
  • GERMAIN DP: A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib. Nephrol (2001) 136:234–240.
  • •First report emphasising that Fabry disease should be seen as a disorder exhibiting a clinical spectrum.
  • BECK M, WHYBRA C, WENDRICH K, GAL A, RIES M: Anderson-Fabry disease in children and adolescents. Contrib. Nephrol (2001) 136:251–255.
  • MACDERMOT KD, HOLMES A, MINERS AH: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. .1 Med. Genet. (2001) 38:750–760.
  • •A recent study reviewing clinical manifestations in males with Fabry disease.
  • DESNICK RJ, IOANNOU YA, ENG CM: In: Alpha -galactosidaseA deficiency: Fabry disease. The metabolic and molecular bases of inherited disease CR Scriver, AL Beaudet, WS Sly et al. (Eds), McGraw Hill, New York, USA (2001):3733–3774.
  • •A comprehensive review of Fabry disease.
  • BRANTON MH, SCHIFFMANN R, SABNIS SG et al.: Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (2002) 81:122–138..
  • SESSA A, MERONI M, BATTINI G et al.: Renal pathological changes in Fabry disease. Inherit. Metab. Dis. (2001) 24:66-70; discussion 65.
  • LINHART A, PALECEK T, BULTAS J etal.: New insights in cardiac structural changes in patients with Fabry's disease. Am. Heart J. (2000) 139:1101–1108.
  • NAKAO S, TAKENAKA T, MAEDA Met al.: An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl. Med. (1995) 333:288–293.
  • SACHDEV B, TAKENAKA T, TERAGUCHI H et al.: Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation (2002) 105:1407–1411.
  • GERMAIN DP: Fabry disease (a-galactosidase A deficiency) : Pathophysiology, clinical signs and genetics aspects. Soc. Biol. (2002): In press.
  • GERMAIN DP, AVAN P, CHASSAING A,BONFILS P: Cochlear manifestations in Fabry disease. 7th International Symposium on Mucopolysaccharidoses and Related Diseases. Paris, France (June 2002).
  • MITSIAS P, LEVINE SL: Cerebrovascular complications of Fabry's disease. Ann. Neurol (1996) 40:8–17.
  • MEIKLE PJ, HOPWOOD JJ, CLAGUE AE, CARREY WF: Prevalence of lysosomal storage disorders. Am. Merl Assoc. (1999) 281:249–254.
  • OPITZ JM, STILES FC, WISE D et at: Thegenetics of angiokeratoma corporis diffusum (Fabry's disease), and its linkage with Xg(a) locus. Am. J. Hum. Genet. (1965) 17:325–342.
  • MACDERMOT KD, HOLMES A, MINERS AH: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. Med. Genet. (2001) 38:769–775.
  • WHYBRA C, WENDRICH K, RIES M, GAL A, BECK M: Clinical manifestations in female Fabry disease patients. Contrib. Nephrol (2001) 136:245–250.
  • GERMAIN DP, SHABBEER J, COTIGNY S, DESNICK RJ: Fabry Disease: twenty novel a-galactosidase A mutations and genotype-phenotype correlations in classic and variant phenotypes. MM. Med. (2002): In press.
  • AERTS JMFG: New findings in enzyme replacement therapy for Fabry disease. European Society of Human Genetics. Genzyme's satellite meeting: New Insights M the Treatment of Lysosomal Storage diseases Strasbourg, France (May 2002).
  • EDMUNDS T: Biochemical comparison ofFabrazyme and Replagal. Poster Presentation. European Workbag Group on Gaucher Disease. Prague, Czech Republic (2–5 May 2002).
  • HANTZOPOULOS PA, CALHOUN DH: Expression of the human alpha-galactosidase A in Escherichia coli K-12. Gene (1987) 57:159–169.
  • CHEN Y, JIN M, EGBORGE T, COPPOLA G, ANDRE J, CALHOUN DH: Expression and characterization of glycosylated and catalytically active recombinant human alpha-galactosidase A produced in Pichia pastoris. Protein Expr: Punk (2000) 20:472–484.
  • ALTMANN F, STAUDACHER E, WILSON IB, MARZ L: Insect cells as hosts for the expression of recombinant glycoproteins. Glycoconj. J. (1999) 16:109–123.
  • PAREKH RB, DWEK RA, THOMAS JR et al: Cell-type-specific and site-specific N-glycosylation of Type I and Type II human tissue plasminogen activator. Biochemistry (1989) 28:7644–7662.
  • BARNGROVER D: Fabrazyme-recombinant protein treatment for Fabry's disease.' Biotechnol (2002) 95:280–282.
  • MAPES CA, ANDERSON RL, SWEELEY CC, DESNICK RJ, KRIVIT W: Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science (1970) 169:987–989.
  • BRADY RO, TALLMAN JF, JOHNSON WG et al.: Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease. N Engl. Med. (1973) 289:9–14.
  • DESNICK RJ, KEAN KJ, GRABOWSKI G,BISHOP DF, SWEELEY CC: Enzyme therapy in Fabry disease : differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. Proc. Natl. Acad. Sri. USA (1979) 76:5326–5330.
  • OHSHIMA T, MURRAY GJ, SWAIM WD et al.: a-Galactosidase A deficient mice: a model of Fabry disease. Proc. Natl. Acad. Sci. USA (1997) 94:2540–2544.
  • IOANNOU YA, ZEIDNER KM, GORDON RE, DESNICK RJ: Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am. J. Hum. Genet. (2001) 68:14–25.
  • OHSHIMA T, SCHIFFMANN R, MURRAY GJ et al: Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. Proc. Natl. Acad. Sci. USA (1999) 96:6423–6427.
  • BRADY RO, MURRAY GJ, MOORE DF, SCHIFFMANN R: Enzyme replacement therapy in Fabry disease. Inherit. Metab. Dis. (2001) 24:18-24; discussion 11–12.
  • SCHIFFMANN R, MURRAY GJ, TRECO D et al: Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc. Natl. Acad. Sci. USA (2000) 97:365–370.
  • ENG CM, BANIKAZEMI M, GORDON RE et al.: A Phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am.' Hum. Genet. (2001) 68: 711–722.
  • SCHIFFMANN R, KOPP JB, AUSTIN HA et al: Enzyme replacement therapy in Fabry disease: a randomized controlled trial. J. Am. Med. Assoc. (2001) 285:2743–2749.
  • ••First placebo-controlled clinical trial ofagalsidase alfa.
  • PASTORES GM, THADANI R: Advances in the management of Anderson-Fabry disease: enzyme replacement therapy. Expert Opin. Biol. Ther. (2002) 2:1–9.
  • WIDMER U et al: Poster Presentation. Second International Symposium on Lysosomal Storage Diseases. Fabry Disease : Clinical Heterogeneity and Management Challenges. Cannes, France (26–28 April 2002).
  • ENG CM, GUFFON N, WILCOX WR et al.: Safety and efficacy of recombinant human a-galactosidase replacement therapy in Fabry's disease. N Engl.' Med. (2001) 345: 9–16.
  • ••First placebo-controlled clinical trial ofagalsidase beta.
  • GERMAIN DP, CAPLAN L, ENG CM et al.: Long-term efficacy and safety of enzyme replacement therapy in Fabry disease. Eur. Hum. Genet. (2002) 10:70.
  • BRANTON MH, SCHIFFMANN R, SABNIS SG et al.: Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) (2002) 81:122–138.
  • DESNICK RJ: Reported at the Conference on Genetics, New Perspectives M Lysosomal and Peroxisomal Disorders. Oporto, Portugal (17–19 January 2002).
  • MOORE DF, SCOTT LT, GLADWIN MT et al.: Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation (2001) 104:1506–1512.
  • EDMUNDS T: Reported at the Second European Round Table on Fabry Disease. Barcelona, Spain (29 November 2001).
  • THADHANI R, WOLF M, WEST ML et al.: Patients with Fabry disease on dialysis in the United States. Kidney Int. (2002) 61:249–255.
  • MOORE DF, ALTARESCU G, LING GS et al.: Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke (2002) 33:525–531.
  • GERMAIN DP: Fabry disease (a-galactosidase A deficiency): new therapeutic perspectives. Soc. Biol. (2002): In press.
  • SCHIFFMANN R, KOPP JB, MOORE DFet al.: Efficacy and safety of prolonged enzyme replacement therapy for Fabry disease. 51st Annual Meeting of the American Society of Human Genetics. San Diego, USA (October 2001).

Websites

  • http://archive.uwcm.ac.uk/uwcm/mg/search/ 119272.html The Human Gene Mutation Database.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.