OBJECTIVES: To determine the effectiveness of enzyme replacement therapies (ERT) for children with Gaucher disease (GD). DESIGN: A longitudinal cohort study including prospective and retrospective clinical data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Children on treatment contributed data before and during treatment. Children not on treatment contributed natural history data. PARTICIPANTS: Consenting children (N = 25, aged 1.1 to 15.6 years) with a diagnosis of GD (14 with GD1 and 11 with GD3) who attended a specialist treatment centre in England. At recruitment, 24 patients were receiving ERT (mean treatment duration, 5.57 years; range 0-13.7 years). OUTCOME MEASURES: Clinical outcomes chosen to reflect disease progression, included platelet count; haemoglobin and absence/presence of bone pain. RESULTS: Duration of ERT was associated with statistically significant improvements in platelet count (p < 0.001), haemoglobin (p < 0.001), and reported bone pain (p = 0.02). The magnitude of effect on haematological parameters was greater in children with GD3 than in those with GD1. CONCLUSIONS: These data provide further evidence of the long-term effectiveness of ERT in children with GD.
OBJECTIVES: To determine the effectiveness of enzyme replacement therapies (ERT) for children with Gaucher disease (GD). DESIGN: A longitudinal cohort study including prospective and retrospective clinical data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Children on treatment contributed data before and during treatment. Children not on treatment contributed natural history data. PARTICIPANTS: Consenting children (N = 25, aged 1.1 to 15.6 years) with a diagnosis of GD (14 with GD1 and 11 with GD3) who attended a specialist treatment centre in England. At recruitment, 24 patients were receiving ERT (mean treatment duration, 5.57 years; range 0-13.7 years). OUTCOME MEASURES: Clinical outcomes chosen to reflect disease progression, included platelet count; haemoglobin and absence/presence of bone pain. RESULTS: Duration of ERT was associated with statistically significant improvements in platelet count (p < 0.001), haemoglobin (p < 0.001), and reported bone pain (p = 0.02). The magnitude of effect on haematological parameters was greater in children with GD3 than in those with GD1. CONCLUSIONS: These data provide further evidence of the long-term effectiveness of ERT in children with GD.
Authors: D I Rosenthal; J A Scott; J Barranger; H J Mankin; S Saini; T J Brady; L K Osier; S Doppelt Journal: J Bone Joint Surg Am Date: 1986-07 Impact factor: 5.284
Authors: Richard J Wenstrup; Katherine A Kacena; Paige Kaplan; Gregory M Pastores; Ainu Prakash-Cheng; Ari Zimran; Thomas N Hangartner Journal: J Bone Miner Res Date: 2007-01 Impact factor: 6.741
Authors: Deborah Elstein; A Joseph Foldes; David Zahrieh; Gabriel M Cohn; Maja Djordjevic; Costin Brutaru; Ari Zimran Journal: Blood Cells Mol Dis Date: 2011-05-04 Impact factor: 3.039
Authors: N Tayebi; M Callahan; V Madike; B K Stubblefield; E Orvisky; D Krasnewich; J J Fillano; E Sidransky Journal: Mol Genet Metab Date: 2001-08 Impact factor: 4.797
Authors: Marieke Biegstraaten; Eugen Mengel; Laszlo Maródi; Milan Petakov; Claus Niederau; Pilar Giraldo; Derralyn Hughes; Mirando Mrsic; Atul Mehta; Carla E M Hollak; Ivo N van Schaik Journal: Brain Date: 2010-08-07 Impact factor: 13.501
Authors: K Wyatt; W Henley; L Anderson; R Anderson; V Nikolaou; K Stein; L Klinger; D Hughes; S Waldek; R Lachmann; A Mehta; A Vellodi; S Logan Journal: Health Technol Assess Date: 2012 Impact factor: 4.014
Authors: Raphael Schiffmann; Henry Mankin; James M Dambrosia; Ramnik J Xavier; Constance Kreps; Suvimol C Hill; Norman W Barton; Daniel I Rosenthal Journal: Blood Cells Mol Dis Date: 2002 Mar-Apr Impact factor: 3.039
Authors: Marcio Andrade-Campos; Pilar Alfonso; Pilar Irun; Judith Armstrong; Carmen Calvo; Jaime Dalmau; Maria-Rosario Domingo; Jose-Luis Barbera; Horacio Cano; Maria-Angeles Fernandez-Galán; Rafael Franco; Inmaculada Gracia; Miguel Gracia-Antequera; Angela Ibañez; Francisco Lendinez; Marcos Madruga; Elena Martin-Hernández; Maria Del Mar O'Callaghan; Alberto Pérez Del Soto; Yolanda Ruiz Del Prado; Ignacio Sancho-Val; Pablo Sanjurjo; Miguel Pocovi; Pilar Giraldo Journal: Orphanet J Rare Dis Date: 2017-05-03 Impact factor: 4.123
Authors: Michael L Ganz; Sean Stern; Alex Ward; Luba Nalysnyk; Martin Selzer; Alaa Hamed; Neal Weinreb Journal: Orphanet J Rare Dis Date: 2017-02-20 Impact factor: 4.123