BACKGROUND: Fabry-Anderson disease is an x-linked deficiency of lysosomal alpha-galactosidase A (GALA), resulting in chronic renal failure, cardiac arrhythmia, hypertrophy, valvular disease, pain (acro-paraesthesiae) and stroke, together with premature mortality. The disease has a significant impact on quality of life (QOL), as illustrated by studies using the EQ-5D. A specific treatment is available for Fabry-Anderson disease consisting of intravenous enzyme replacement therapy (ERT) of the deficient enzyme. The variable clinical efficacy and cost of ERT has resulted in reluctance by some health providers to approve it. METHODS: We use the limited QOL data available in the Fabry-Anderson disease literature on ERT to derive standard economic metrics. These were derived by bootstrap estimates of the incremental net benefit (INB) statistics together with a cost-effectiveness acceptability curve relating the willingness to pay to the probability that the INB was >0. The estimates were further developed by adoption of a supplementary Bayesian approach utilising a sceptical and enthusiastic prior of the INB of ERT in Fabry-Anderson disease. RESULTS: ERT for Fabry-Anderson disease is not economically viable by standard health programme evaluation metrics. Based on current ERT costs (year 2005 values), derivation of the INB distribution, and a Bayesian analysis using an enthusiastic and sceptical prior of the INB, an upper (350,000 dollars over 1 year) and lower (175,000 dollars over 1 year) economic cost, respectively, of ERT was derived. CONCLUSION: The cost of ERT will always result in a net deficit to society under current costing and ERT efficacy as determined by the QALY metric. The rules of fair cooperation should govern decision making both for ERT in Fabry-Anderson disease and for funding therapeutic advances in other rare diseases belonging to the orphan and ultra-orphan categories.
BACKGROUND: Fabry-Anderson disease is an x-linked deficiency of lysosomal alpha-galactosidase A (GALA), resulting in chronic renal failure, cardiac arrhythmia, hypertrophy, valvular disease, pain (acro-paraesthesiae) and stroke, together with premature mortality. The disease has a significant impact on quality of life (QOL), as illustrated by studies using the EQ-5D. A specific treatment is available for Fabry-Anderson disease consisting of intravenous enzyme replacement therapy (ERT) of the deficient enzyme. The variable clinical efficacy and cost of ERT has resulted in reluctance by some health providers to approve it. METHODS: We use the limited QOL data available in the Fabry-Anderson disease literature on ERT to derive standard economic metrics. These were derived by bootstrap estimates of the incremental net benefit (INB) statistics together with a cost-effectiveness acceptability curve relating the willingness to pay to the probability that the INB was >0. The estimates were further developed by adoption of a supplementary Bayesian approach utilising a sceptical and enthusiastic prior of the INB of ERT in Fabry-Anderson disease. RESULTS: ERT for Fabry-Anderson disease is not economically viable by standard health programme evaluation metrics. Based on current ERT costs (year 2005 values), derivation of the INB distribution, and a Bayesian analysis using an enthusiastic and sceptical prior of the INB, an upper (350,000 dollars over 1 year) and lower (175,000 dollars over 1 year) economic cost, respectively, of ERT was derived. CONCLUSION: The cost of ERT will always result in a net deficit to society under current costing and ERT efficacy as determined by the QALY metric. The rules of fair cooperation should govern decision making both for ERT in Fabry-Anderson disease and for funding therapeutic advances in other rare diseases belonging to the orphan and ultra-orphan categories.
Authors: C M Eng; N Guffon; W R Wilcox; D P Germain; P Lee; S Waldek; L Caplan; G E Linthorst; R J Desnick Journal: N Engl J Med Date: 2001-07-05 Impact factor: 91.245
Authors: Raphael Schiffmann; Markus Ries; Margaret Timmons; John T Flaherty; Roscoe O Brady Journal: Nephrol Dial Transplant Date: 2005-10-04 Impact factor: 5.992
Authors: M Beck; R Ricci; U Widmer; F Dehout; A García de Lorenzo; C Kampmann; A Linhart; G Sunder-Plassmann; G Houge; U Ramaswami; A Gal; A Mehta Journal: Eur J Clin Invest Date: 2004-12 Impact factor: 4.686
Authors: C Whybra; C Kampmann; F Krummenauer; M Ries; E Mengel; E Miebach; F Baehner; K Kim; M Bajbouj; A Schwarting; A Gal; M Beck Journal: Clin Genet Date: 2004-04 Impact factor: 4.438
Authors: Natalia Pacienza; Makoto Yoshimitsu; Nobuo Mizue; Bryan C Y Au; James C M Wang; Xin Fan; Toshihiro Takenaka; Jeffrey A Medin Journal: Mol Ther Date: 2012-04-03 Impact factor: 11.454
Authors: Susana Ferreira; Christiane Auray-Blais; Michel Boutin; Pamela Lavoie; José Pedro Nunes; Elisabete Martins; Scott Garman; João Paulo Oliveira Journal: Clin Chim Acta Date: 2015-06-09 Impact factor: 3.786
Authors: Joseph Muenzer; Olaf Bodamer; Barbara Burton; Lorne Clarke; Gudrun Schulze Frenking; Roberto Giugliani; Simon Jones; Maria Verónica Muñoz Rojas; Maurizio Scarpa; Michael Beck; Paul Harmatz Journal: Eur J Pediatr Date: 2011-10-29 Impact factor: 3.183
Authors: Mustafa A Kamani; Philippe Provençal; Michel Boutin; Natalia Pacienza; Xin Fan; Anton Novak; Tonny C Huang; Beth Binnington; Bryan C Au; Christiane Auray-Blais; Clifford A Lingwood; Jeffrey A Medin Journal: Future Sci OA Date: 2016-10-13
Authors: Tim A Kanters; Ans T van der Ploeg; Michelle E Kruijshaar; Dimitris Rizopoulos; W Ken Redekop; Maureen P M H Rutten-van Mӧlken; Leona Hakkaart-van Roijen Journal: Orphanet J Rare Dis Date: 2017-12-13 Impact factor: 4.123
Authors: Saskia M Rombach; Carla E M Hollak; Gabor E Linthorst; Marcel G W Dijkgraaf Journal: Orphanet J Rare Dis Date: 2013-02-19 Impact factor: 4.123