Agalsidase alfa for enzyme-replacement therapy in Fabry disease

References

• Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N. Engl. J. Med.276, 1163–1167 (1967).
   PubMed Web of Science ®Google Scholar
• Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA281, 249–254 (1999).
   PubMed Web of Science ®Google Scholar
• Spada M, Pagliardini S, Yasuda M et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am. J. Hum. Genet.79, 31–40 (2006).
   PubMed Web of Science ®Google Scholar
• Kirkilionis AJ, Riddell DC, Spence MW, Fenwick RG. Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone. J. Med. Genet.28, 232–240 (1991).
   PubMed Web of Science ®Google Scholar
• Pintos-Morell G, Beck M. Fabry disease in children and the effects of enzyme replacement treatment. Eur. J. Pediatr.168, 1355–1363 (2009).
   Google Scholar
• Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry’s disease. Arch. Ophthalmol.97, 671–676 (1979).
   PubMedGoogle Scholar
• Kelly B, Kelly E. Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities. Arch. Dermatol.142, 615–618 (2006).
   Google Scholar
• Warnock DG, West ML. Diagnosis and management of kidney involvement in Fabry disease. Adv. Chronic Kidney Dis.13, 138–147 (2006).
   PubMed Web of Science ®Google Scholar
• Kampmann C, Linhart A, Baehner F et al. Onset and progression of the Anderson–Fabry disease related cardiomyopathy. Int. J. Cardiol.130, 367–373 (2008).
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Ries M. Fabry’s disease – an important risk factor for stroke. Lancet366, 1754–1756 (2005).
   Web of Science ®Google Scholar
• Mehta A, Clarke JT, Giugliani R et al. Natural course of Fabry disease: changing pattern of causes of death in FOS –Fabry Outcome Survey. J. Med. Genet.46, 548–552 (2009).
   PubMed Web of Science ®Google Scholar
• Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet. Med.11, 790–796 (2009).
   PubMed Web of Science ®Google Scholar
• Schiffmann R. Fabry disease. Pharmacol. Ther.122, 65–77 (2009).
   PubMed Web of Science ®Google Scholar
• Zarate YA, Hopkin RJ. Fabry’s disease. Lancet372, 1427–1435 (2008).
   PubMed Web of Science ®Google Scholar
• Gibas AL, Klatt R, Johnson J, Clarke JT, Katz J. Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease. J. Genet. Couns.17, 528–537 (2008).
   Google Scholar
• Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet. Med.9, 34–45 (2007).
   PubMed Web of Science ®Google Scholar
• Whybra C, Kampmann C, Willers I et al. Anderson–Fabry disease: clinical manifestations of disease in female heterozygotes. J. Inherit. Metab. Dis.24, 715–724 (2001).
   PubMed Web of Science ®Google Scholar
• MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J. Med. Genet.38, 769–775 (2001).
   PubMed Web of Science ®Google Scholar
• Thadhani R, Wolf M, West ML et al. Patients with Fabry disease on dialysis in the United States. Kidney Int.61, 249–255 (2002).
   PubMed Web of Science ®Google Scholar
• Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry registry. Stroke40, 788–794 (2009).
   PubMed Web of Science ®Google Scholar
• Wilcox WR, Oliveira JP, Hopkin RJ et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol. Genet. Metab.93, 112–128 (2008).
   PubMed Web of Science ®Google Scholar
• Ortiz A, Cianciaruso B, Cizmarik M et al. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol. Dial. Transplant.25, 769–775 (2010).
   PubMed Web of Science ®Google Scholar
• Maier EM, Osterrieder S, Whybra C et al. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr. Suppl.95, 30–38 (2006).
   PubMedGoogle Scholar
• Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr. Suppl.95, 11–15 (2006).
   Google Scholar
• Fan JQ. A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity. Biol. Chem.389, 1–11 (2008).
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Germain DP, Castelli J, Shenker A, Lockhart DJ. Phase 2 clinical trials of the pharmacological chaperone AT1001 for the treatment of Fabry disease. Proceedings of the 58th Annual Meeting of the American Society of Human Genetics (ASFG) Philadelphia, PA, USA (2008).
   Google Scholar
• Elstein D, Hollak C, Aerts JM et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J. Inherit. Metab. Dis.27, 757–766 (2004).
   PubMed Web of Science ®Google Scholar
• Heare T, Alp NJ, Priestman DA et al. Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment. J. Inherit. Metab. Dis.30, 79–87 (2007).
   Google Scholar
• Abe A, Gregory S, Lee L et al. Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. J. Clin. Invest.105, 1563–1571 (2000).
   PubMed Web of Science ®Google Scholar
• Beck M. Agalsidase α for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opin. Biol. Ther.9, 255–261 (2009).
   PubMed Web of Science ®Google Scholar
• Lee K, Jin X, Zhang K et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology13, 305–313 (2003).
   PubMed Web of Science ®Google Scholar
• Miyamura N, Araki E, Matsuda K et al. A carboxy-terminal truncation of human α-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted. J. Clin. Invest.98, 1809–1817 (1996).
   PubMed Web of Science ®Google Scholar
• Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human α-galactosidase. J. Mol. Biol.337, 319–335 (2004).
   PubMed Web of Science ®Google Scholar
• Blom D, Speijer D, Linthorst GE, Donker-Koopman WG, Strijland A, Aerts JM. Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. Am. J. Hum. Genet.72, 23–31 (2003).
   PubMedGoogle Scholar
• Sakuraba H, Murata-Ohsawa M, Kawashima I et al. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J. Hum. Genet.51, 180–188 (2006).
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Kopp JB, Austin HA 3rd et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA285, 2743–2749 (2001).
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol. Dial. Transplant.21, 345–354 (2006).
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Martin RA, Reimschisel T et al. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J. Pediatr.156, 832–837, 837.e1 (2010).
   PubMed Web of Science ®Google Scholar
• Clarke JT, West ML, Bultas J, Schiffmann R. The pharmacology of multiple regimens of agalsidase α enzyme replacement therapy for Fabry disease. Genet. Med.9, 504–509 (2007).
   PubMed Web of Science ®Google Scholar
• Vedder AC, Breunig F, Donker-Koopman WE et al. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol. Genet. Metab.94, 319–325 (2008).
   PubMed Web of Science ®Google Scholar
• Whybra C, Miebach E, Mengel E et al. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet. Med.11, 441–449 (2009).
   Google Scholar
• Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F. The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. Cardiovasc. Hematol. Agents Med. Chem.4, 289–297 (2006).
   Google Scholar
• Aerts JM, Groener JE, Kuiper S et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl Acad. Sci. USA105, 2812–2817 (2008).
   PubMed Web of Science ®Google Scholar
• Rombach SM, Dekker N, Bouwman MG et al. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim. Biophys. Acta1802(9), 741–748 (2010).
   PubMed Web of Science ®Google Scholar
• Ries M, Clarke JT, Whybra C et al. Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase α in children and adolescents. J. Clin. Pharmacol.47, 1222–1230 (2007).
   PubMed Web of Science ®Google Scholar
• Hughes DA, Elliott PM, Shah J et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson–Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase α. Heart94, 153–158 (2008).
   PubMed Web of Science ®Google Scholar
• Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a Phase IIIB study. J. Inherit. Metab. Dis.26, 617–627 (2003).
   PubMed Web of Science ®Google Scholar
• Ries M, Clarke JT, Whybra C et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics118, 924–932 (2006).
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Floeter MK, Dambrosia JM et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve28, 703–710 (2003).
   PubMed Web of Science ®Google Scholar
• West M, Nicholls K, Mehta A et al. Agalsidase α and kidney dysfunction in Fabry disease. J. Am. Soc. Nephrol.20, 1132–1139 (2009).
   PubMed Web of Science ®Google Scholar
• Cleeland CS, Ryan KM. Pain assessment: global use of the Brief Pain Inventory. Ann. Acad. Med. Singapore23, 129–138 (1994).
   PubMedGoogle Scholar
• Kampmann C, Linhart A, Devereux RB, Schiffmann R. Effect of agalsidase α replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis. Clin. Ther.31, 1966–1976 (2009).
   Google Scholar
• de Simone G, Daniels SR, Devereux RB et al. Left ventricular mass and body size in normotensive children and adults: assessment of allometric relations and impact of overweight. J. Am. Coll. Cardiol.20, 1251–1260 (1992).
   PubMed Web of Science ®Google Scholar
• Ramaswami U, Wendt S, Pintos-Morell G et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr.96, 122–127 (2007).
   PubMed Web of Science ®Google Scholar
• Beck M, Ricci R, Widmer U et al. Fabry disease: overall effects of agalsidase α treatment. Eur. J. Clin. Invest.34, 838–844 (2004).
   PubMed Web of Science ®Google Scholar
• Schwarting A, Dehout F, Feriozzi S, Beck M, Mehta A, Sunder-Plassmann G. Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin. Nephrol.66, 77–84 (2006).
   PubMed Web of Science ®Google Scholar
• Feriozzi S, Schwarting A, Sunder-Plassmann G, West M, Cybulla M. Agalsidase α slows the decline in renal function in patients with Fabry disease. Am. J. Nephrol.29, 353–361 (2009).
   Google Scholar
• Mehta A, Beck M, Elliott P et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of registry data. Lancet374, 1986–1996 (2009); erratum in: Lancet375, 200 (2010).
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Warnock DG, Banikazemi M et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol. Dial. Transplant.24, 2102–2111 (2009).
   PubMed Web of Science ®Google Scholar
• Levey AS. Clinical practice. Nondiabetic kidney disease. N. Engl. J. Med.347, 1505–1511 (2002).
   PubMed Web of Science ®Google Scholar
• Branton MH, Schiffmann R, Sabnis SG et al. Natural history of Fabry renal disease: influence of α-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore)81, 122–138 (2002).
   PubMed Web of Science ®Google Scholar
• Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J. Med. Genet.42, 247–252 (2005).
   PubMed Web of Science ®Google Scholar
• Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy – a retrospective analysis from the Fabry Outcome Survey. Clin. J. Pain23, 535–542 (2007).
   PubMed Web of Science ®Google Scholar
• The EuroQol Group. EuroQol – a new facility for the measurement of health-related quality of life. Health Policy16, 199–208 (1990).
   PubMed Web of Science ®Google Scholar
• Miners AH, Holmes A, Sherr L, Jenkinson C, MacDermot KD. Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. Qual. Life Res.11, 127–133 (2002).
   PubMed Web of Science ®Google Scholar
• Gold KF, Pastores GM, Botteman MF et al. Quality of life of patients with Fabry disease. Qual. Life Res.11, 317–327 (2002).
   PubMed Web of Science ®Google Scholar
• Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet. Med.8, 346–353 (2006).
   Google Scholar
• Hoffmann B, Schwarz M, Mehta A, Keshav S. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin. Gastroenterol. Hepatol.5, 1447–1453 (2007).
   PubMed Web of Science ®Google Scholar
• Thofehrn S, Netto C, Cecchin C et al. Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience. Ren. Fail.31, 773–778 (2009).
   PubMed Web of Science ®Google Scholar
• Vedder AC, Linthorst GE, Houge G et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE2, e598 (2007).
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Hauer P, Freeman B et al. Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve34, 53–56 (2006).
   PubMed Web of Science ®Google Scholar
• Jardim LB, Gomes I, Netto CB et al. Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. J. Inherit. Metab. Dis.29, 653–659 (2006).
   PubMed Web of Science ®Google Scholar
• Moore DF, Scott LT, Gladwin MT et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation104, 1506–1512 (2001).
   PubMed Web of Science ®Google Scholar
• Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol.2, 4 (2002).
   PubMed Web of Science ®Google Scholar
• Moore DF, Altarescu G, Ling GS et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke33, 525–531 (2002).
   PubMed Web of Science ®Google Scholar
• Jardim L, Vedolin L, Schwartz IV et al. CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J. Inherit. Metab. Dis.27, 229–240 (2004).
   PubMed Web of Science ®Google Scholar
• Jardim LB, Aesse F, Vedolin LM et al. White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up. Arq. Neuropsiquiatr.64, 711–717 (2006).
   PubMed Web of Science ®Google Scholar
• Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A. Hearing loss in Fabry disease: the effect of agalsidase α replacement therapy. J. Inherit. Metab. Dis.26, 787–794 (2003).
   PubMed Web of Science ®Google Scholar
• Palla A, Hegemann S, Widmer U, Straumann D. Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy. J. Neurol.254, 1433–1442 (2007).
   PubMed Web of Science ®Google Scholar
• Dehout F, Roland D, Treille de Granseigne S, Guillaume B, Van Maldergem L. Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease. J. Inherit. Metab. Dis.27, 499–505 (2004).
   PubMed Web of Science ®Google Scholar
• Whybra C, Kampmann C, Krummenauer F et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin. Genet.65, 299–307 (2004).
   PubMed Web of Science ®Google Scholar
• Parini R, Rigoldi M, Santus F et al. Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index. Clin. Genet.74, 260–266 (2008).
   Google Scholar
• Cousins A, Lee P, Rorman D et al. Home-based infusion therapy for patients with Fabry disease. Br. J. Nurs.17, 653–657 (2008).
   Google Scholar
• Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Intravenous enzyme replacement therapy: better in home or hospital? Br. J. Nurs.15, 330–333 (2006).
   PubMedGoogle Scholar
• Hughes DA, Milligan A, Mehta A. Home therapy for lysosomal storage disorders. Br. J. Nurs.16, 1384–1389 (2007).
   Google Scholar
• Schiffmann R, Murray GJ, Treco D et al. Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc. Natl. Acad. Sci. USA97, 365–370 (2000).
   PubMed Web of Science ®Google Scholar
• Weidemann F, Niemann M, Breunig F et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation119, 524–529 (2009).
   PubMed Web of Science ®Google Scholar
• Martins AM, D’Almeida V, Kyosen SO et al. Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences. J. Pediatr.155, S19–S31 (2009).
   Google Scholar
• Wilcox WR, Banikazemi M, Guffon N et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am. J. Hum. Genet.75, 65–74 (2004).
   PubMed Web of Science ®Google Scholar
• Lidove O, West ML, Pintos-Morell G et al. Effects of enzyme replacement therapy in Fabry disease – a comprehensive review of the medical literature. Genet. Med. (2010) (In press).
   Google Scholar
• Schiffmann R, Askari H, Timmons M et al. Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J. Am. Soc. Nephrol.18, 1576–1583 (2007).
   PubMed Web of Science ®Google Scholar
• Eng CM, Guffon N, Wilcox WR et al. Safety and efficacy of recombinant human α-galactosidase A – replacement therapy in Fabry’s disease. N. Engl. J. Med.345, 9–16 (2001).
   PubMed Web of Science ®Google Scholar
• Germain DP, Waldek S, Banikazemi M et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J. Am. Soc. Nephrol.18, 1547–1557 (2007).
   PubMed Web of Science ®Google Scholar
• Banikazemi M, Bultas J, Waldek S et al. Agalsidase-β therapy for advanced Fabry disease: a randomized trial. Ann. Intern. Med.146, 77–86 (2007).
   PubMed Web of Science ®Google Scholar
• Sirrs S, Clarke JT, Bichet DG et al. Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. Mol. Genet. Metab.99, 367–373 (2009).
   Google Scholar
• Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-β. J. Am. Soc. Nephrol.18, 2609–2617 (2007).
   Google Scholar
• Rohard I, Schaefer E, Kampmann C, Beck M, Gal A. Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease. J. Inherit. Metab. Dis. DOI: 10.1007/s10545-008-0920-z (2008) (Epub ahead of print).
   Google Scholar
• Hoffmann B. Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Orphanet J. Rare Dis.4, 21 (2009).
   PubMedGoogle Scholar