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• W2088053775 abstract "In this issue, three articles are relate to various aspects of enzyme replacement therapy (ERT).1.Watt T. Burlina A.P. Cazzorla C. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry registry.1:CAS:528:DC%2BC3cXhsVWhur3E10.1097/GIM.0b013e3181f13a4aGenet Med. 2010; 12: 703-712Google Scholar, 2.Lidove O. West W.L. Pintos-Morell G. Effects of enzyme replacement therapy in Fabry disease—a comprehensive review of the medical literature.1:CAS:528:DC%2BC3cXhsVWhur3L10.1097/GIM.0b013e3181f13b75Genet Med. 2010; 12: 668-679Google Scholar, 3.Mehta A. West W.L. Pintos-Morell G. Therapeutic goals in the treatment of Fabry disease.1:CAS:528:DC%2BC3cXhsVWhur3F10.1097/GIM.0b013e3181f6e676Genet Med. 2010; 12: 713-720Google Scholar The studies discuss the use of existing α-galactosidase A preparations and are based on two registries of patients with Fabry disease. The two enzyme preparations for ERT in Fabry disease are agalsidase alfa, produced by Shire Human Genetic Therapies, and agalsidase beta, produced by Genzyme Corporation. Both are approved in Europe and other countries, but only agalsidase beta is currently approved for general use in the United States. Since completion of the randomized controlled trials that led to the approval of these two compounds,4.Eng C.M. Guffon N. Wilcox W.R. Safety and efficacy of recombinant human alpha-galactosidase A—replacement therapy in Fabry's disease.1:CAS:528:DC%2BD3MXltlKisro%3D10.1056/NEJM200107053450102N Eng J Med. 2001; 345: 9-16Google Scholar,5.Schiffmann R. Kopp J.B. Austin 3rd, H.A. Enzyme replacement therapy in fabry disease: a randomized controlled trial.1:STN:280:DC%2BD3MzltVCgsg%3D%3D10.1001/jama.285.21.2743JAMA. 2001; 285: 2743-2749Google Scholar most studies describing the efficacy of ERT have been open labeled and increasingly based on patient registries. The three articles in this issue exemplify this trend. The use of patient registries for a variety of diseases and treatments has increased in recent years.6.Dreyer N.A. Garner S. Registries for robust evidence.1:CAS:528:DC%2BD1MXhtVWhurrM10.1001/jama.2009.1092JAMA. 2009; 302: 790-791Google Scholar The Agency for Healthcare Research and Quality (http://effectivehealthcare.ahrq.gov/repFiles/DEcIDEs_Registries.html#execsum) defines a registry as “an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves a predetermined scientific, clinical, or policy purpose.” The goal of a patient registry is to collect “real-world” data on the safety and effectiveness of a new but already approved treatment by following typical patients. Those patients receiving a novel treatment are included in registries to evaluate how their condition progresses and whether any untoward events occur that seem to be related to the treatment.7.Gliklich RE, Dreyer NA, editors. Registries for evaluating patient outcomes: a user's guide. ( Prepared by Outcome DEcIDE Center [Outcome Sciences, Inc. dba Outcome] under Contract No. HHSA29020050035I TO1.) AHRQ Publication No. 07-EHC001-1. Rockville, MD: Agency for Healthcare Research and Quality, 2007.Google Scholar Registries have been used to expand indication of a drug, of an interventional procedure, or of the use of a diagnostic method.6.Dreyer N.A. Garner S. Registries for robust evidence.1:CAS:528:DC%2BD1MXhtVWhurrM10.1001/jama.2009.1092JAMA. 2009; 302: 790-791Google Scholar The drug inserts of most ERT products contain a recommendation to the physician to include the patient in the appropriate registry. The advantages of a registry include the enrollment of a large number of patients with the full spectrum of the disorder and the potential detection of rare events. However, limitations of registries include possible patient selection bias (e.g., inclusion of more severely affected or more compliant patients in registries), incomplete and missing data leading to misclassification, and, most importantly, absence of concurrent untreated controls or controls treated by an alternative approach.8.Brown M.L. Gersh B.J. Holmes D.R. Bailey K.R. Sundt 3rd, T.M. From randomized trials to registry studies: translating data into clinical information.10.1038/ncpcardio1307Nat Clin Pract Cardiovasc Med. 2008; 5: 613-620Google Scholar Some of the findings in the three articles exemplify these advantages and limitations. The deficiencies can, however, be partially corrected by the use of various statistical tools such as sensitivity analysis and other predictive modeling techniques.9.Stürmer T. Schneeweiss S. Rothman K.J. Avorn J. Glynn R.J. Performance of propensity score calibration—a simulation study.10.1093/aje/kwm074Am J Epidemiol. 2007; 165: 1110-1118Google Scholar,10.Stern M. Williams K. Eddy D. Kahn R. Validation of prediction of diabetes by the Archimedes model and comparison with other predicting models.10.2337/dc08-0521Diabetes Care. 2008; 31: 1670-1671Google Scholar In the first article, Watt et al.1.Watt T. Burlina A.P. Cazzorla C. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry registry.1:CAS:528:DC%2BC3cXhsVWhur3E10.1097/GIM.0b013e3181f13a4aGenet Med. 2010; 12: 703-712Google Scholar have found a significant increase in quality of life (QOL) in 71 men and 59 women on their registry in the first 2 years on agalsidase beta. Patients with lower baseline QOL score, especially men, tended to have the greater increase in QOL. Because of a more severe and uniform type of the disease, hemizygous male patients with Fabry disease tended to benefit more than heterozygous female patients with Fabry disease, in particular in the physical component of the SF-36 questionnaire. The authors acknowledge the limitations of their study. The most remarkable of them was the inclusion in this study of only 71 men who filled the SF-36 questionnaire out of the 898 men in the registry or 7.3%. A similar proportion of women were studied (13%). It is possible that patients with greater improvement in QOL were more likely to fill the form, thus introducing a bias toward a positive treatment effect. Increased QOL in patients on placebo ERT has been observed, further emphasizing the difficulty of assessing treatment effect, especially in a subjective parameter.4.Eng C.M. Guffon N. Wilcox W.R. Safety and efficacy of recombinant human alpha-galactosidase A—replacement therapy in Fabry's disease.1:CAS:528:DC%2BD3MXltlKisro%3D10.1056/NEJM200107053450102N Eng J Med. 2001; 345: 9-16Google Scholar Nevertheless, the frequent recurrence of symptoms in patients whose ERT had to be stopped or curtailed (because of the recent shortage in the supply of agalsidase beta) suggests that these QOL improvements had been significant (R. Schiffmann, personal observation). Importantly, improved QOL was also shown in patients receiving agalsidase alfa.11.Mehta A. Beck M. Elliott P. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.1:CAS:528:DC%2BD1MXhsFGgtLrN10.1016/S0140-6736(09)61493-8Lancet. 2009; 374: 1986-1996Google Scholar The mean QOL scores tended to be uniformly lower at the 2 years time point than at the 1-year time point, particularly in men.4.Eng C.M. Guffon N. Wilcox W.R. Safety and efficacy of recombinant human alpha-galactosidase A—replacement therapy in Fabry's disease.1:CAS:528:DC%2BD3MXltlKisro%3D10.1056/NEJM200107053450102N Eng J Med. 2001; 345: 9-16Google Scholar This may be due to a ceiling effect or to a change in the frame of reference over time.1.Watt T. Burlina A.P. Cazzorla C. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry registry.1:CAS:528:DC%2BC3cXhsVWhur3E10.1097/GIM.0b013e3181f13a4aGenet Med. 2010; 12: 703-712Google Scholar A similar waning effect of ERT was, however, seen in studies on the effect of ERT on left ventricular mass and may represent decreased treatment effect in the face of a progressive disease.11.Mehta A. Beck M. Elliott P. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.1:CAS:528:DC%2BD1MXhsFGgtLrN10.1016/S0140-6736(09)61493-8Lancet. 2009; 374: 1986-1996Google Scholar Lidove et al.2.Lidove O. West W.L. Pintos-Morell G. Effects of enzyme replacement therapy in Fabry disease—a comprehensive review of the medical literature.1:CAS:528:DC%2BC3cXhsVWhur3L10.1097/GIM.0b013e3181f13b75Genet Med. 2010; 12: 668-679Google Scholar review the ERT literature on both agalsidase alfa and agalsidase beta. They found evidence of a stabilizing effect on kidney function, a reduction of neuropathic pain and improvement of small fiber peripheral nerve function, and a positive effect on the heart, predominantly by a reduction of left ventricular hypertrophy in the early stage of the disease, although prevention of heart failure or increased survival have not been demonstrated. No effect on cardiac rhythm or conduction abnormalities has been described other than increased heart rate variability in male children.12.Schiffmann R. Martin R.A. Reimschisel T. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.1:CAS:528:DC%2BC3cXksFKgu74%3D10.1016/j.jpeds.2009.11.007J Pediatr. 2010; 156: 832-837, 837.e1Google Scholar Lidove et al.2.Lidove O. West W.L. Pintos-Morell G. Effects of enzyme replacement therapy in Fabry disease—a comprehensive review of the medical literature.1:CAS:528:DC%2BC3cXhsVWhur3L10.1097/GIM.0b013e3181f13b75Genet Med. 2010; 12: 668-679Google Scholar confirm the lack of evidence of any preventive effect of ERT on ischemic strokes in patients with Fabry disease. These therapeutic effects are modest overall but would probably be enhanced if ERT is initiated at an early age. These authors also conclude that, although very few studies were performed comparing the two commercially available forms of α-galactosidase A, the therapeutic effect of the two agalsidases is similar overall. On the basis of their conclusions regarding the effect of ERT, the authors of the third paper, Mehta et al.,3.Mehta A. West W.L. Pintos-Morell G. Therapeutic goals in the treatment of Fabry disease.1:CAS:528:DC%2BC3cXhsVWhur3F10.1097/GIM.0b013e3181f6e676Genet Med. 2010; 12: 713-720Google Scholar describe what they consider should be the therapeutic goals for the treatment of Fabry disease. In considering the therapy for a disease such as Fabry, one has to take into account that virtually all the complications of the disease are “nonspecific” in nature—i.e., they have similar presentation and clinical characteristics as they would be in non-Fabry patients (atherosclerosis, diabetes, etc.).13.Schiffmann R. Fabry disease.1:CAS:528:DC%2BD1MXkt1Sisr8%3D10.1016/j.pharmthera.2009.01.003Pharmacol Ther. 2009; 122: 65-77Google Scholar As a consequence, other standard therapies developed for the general population, e.g., therapies for proteinuric renal insufficiency or for various cardiac ailments have similar beneficial effects in patients with Fabry disease.14.Tahir H. Jackson L.L. Warnock D.G. Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta.1:CAS:528:DC%2BD2sXhtV2murvN10.1681/ASN.2006121400J Am Soc Nephrol. 2007; 18: 2609-2617Google Scholar Such therapies range from low-cost remedies such as angiotensin converting enzyme inhibitors/angiotensin receptor blockers to more definitive but costly interventions such as renal transplantation which clearly prolong life. These “nonspecific” therapies are efficacious but confound the evaluation of a specific treatment such as ERT, especially in open-labeled, uncontrolled, long-term observational studies. Mehta et al.12.Schiffmann R. Martin R.A. Reimschisel T. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.1:CAS:528:DC%2BC3cXksFKgu74%3D10.1016/j.jpeds.2009.11.007J Pediatr. 2010; 156: 832-837, 837.e1Google Scholar correctly emphasize that the main goal of therapy for Fabry disease is prevention of its cardinal cerebrovascular, renal, and cardiac manifestations. They also appropriately state the very high likelihood that a typical patient with no residual α-galactosidase A will develop renal insufficiency or some cardiac anomaly. However, they usually recommend initiating specific therapy only when some renal (e.g., proteinuria or albuminuria), cardiac, or cerebrovascular abnormalities are already present. Given the high likelihood that male patients with this X-linked disease will develop major complications, why not provide ERT to them as soon as they are diagnosed and well before any clinical or laboratory evidence of organ damage is present? It is likely that once proteinuria, cardiac hypertrophy, or any other abnormality is present, substantial damage has already occurred. The evidence presented thus far supports such an approach. A controlled trial of early versus delayed ERT is highly desirable but such a study has not materialized thus far. In addition, preventive therapies have been in use for diseases in which complications are far less likely than is the case in Fabry disease.15.Brugts J.J. Yetgin T. Hoeks S.E. The benefits of statins in people without established cardiovascular disease but with cardiovascular risk factors: meta-analysis of randomised controlled trials.1:STN:280:DC%2BD1Mvls1CltQ%3D%3D10.1136/bmj.b2376BMJ. 2009; 338: b2376Google Scholar Preventive therapy in Fabry disease may include not only ERT but also angiotensin converting enzyme inhibitor/ angiotensin receptor blocker even before the onset of overt albuminuria.16.Adarkwah C.C. Gandjour A. Cost-effectiveness of angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers in newly diagnosed type 2 diabetes in Germany.10.1017/S0266462309990584Int J Technol Assess Health Care. 2010; 26: 62-70Google Scholar In the same vein, because ERT has not been shown to prevent strokes, why do we expect its use to prevent or delay the occurrence of stroke, or why should a clinical sign of cerebrovascular involvement constitute an indicator to start ERT? Because strokes occur at about a 20-fold higher rate in patients with Fabry disease than in the general population, primary prevention using effective antiplatelet agents such as clopidogrel or aspirin and extended-release dipyridamole should probably be the desired approach in patients with no residual enzyme activity. Since the advent of ERT for Fabry disease, there has been a heated debate about the dose that should be used. Agalsidase alfa has been used at a fifth the dose of agalsidase beta. However, the much higher dose does not seem to be associated thus far with measurable clinical superiority. The lack of a significant dose effect is not surprising because no real dose effect on the substrate biomarker globotriaosylceramide in urine or blood was seen in studies using agalsidase alfa.17.Schiffmann R. Murray G.J. Treco D. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease.1:CAS:528:DC%2BD3cXjvVGhsQ%3D%3D10.1073/pnas.97.1.365Proc Natl Acad Sci USA. 2000; 97: 365-370Google Scholar,18.Clarke J.T. West M.L. Bultas J. Schiffmann R. The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease.1:CAS:528:DC%2BD2sXptVGls74%3D10.1097/GIM.0b013e318133fb1bGenet Med. 2007; 9: 504-509Google Scholar Rather than the dose, it is delayed timing of ERT initiation, the intermittent administration (while a healthy individual has a constant supply of α-galactosidase A in every cell), uneven organ distribution, and tissue penetration that are more likely explanations of the limited effect of ERT.19.Weidemann F. Niemann M. Breunig F. Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.1:CAS:528:DC%2BD1MXpt1ektw%3D%3D10.1161/CIRCULATIONAHA.108.794529Circulation. 2009; 119: 524-529Google Scholar, 20.Schiffmann R. Askari H. Timmons M. Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.1:CAS:528:DC%2BD2sXls1Gksrw%3D10.1681/ASN.2006111263J Am Soc Nephrol. 2007; 18: 1576-1583Google Scholar, 21.Murray G.J. Anver M.R. Kennedy M.A. Quirk J.M. Schiffmann R. Cellular and tissue distribution of intravenously administered agalsidase alfa.1:CAS:528:DC%2BD2sXitFOqs7s%3D10.1016/j.ymgme.2006.11.008Mol Genet Metab. 2007; 90: 307-312Google Scholar It is important to remember that unlike type 1 Gaucher disease, for example, which is essentially a one-cell (macrophage) disorder, Fabry disease affects multiple organ systems and various cell types. The clinical application of the two agalsidases has been a source of controversy and competition between the makers of these two enzyme preparations, one in which physician investigators too often seem to serve as surrogates. In reality, most of the difficulties encountered in evaluating ERT for Fabry disease have been due to the nature of the disorder. Similar obstacles are likely to lie in the path of investigators testing other specific therapeutic approaches such as increasing the level and activity of the mutated enzyme with pharmacological chaperones or substrate reduction therapy.22.Zarate Y.A. Hopkin R.J. Fabry's disease.1:CAS:528:DC%2BD1cXht1KntLvL10.1016/S0140-6736(08)61589-5Lancet. 2008; 372: 1427-1435Google Scholar Disclosure: The author has received research funds and honoraria from Shire Human Genetics Therapies, Amicus Therapeutics, and Genzyme Corporation" @default.
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• W2088053775 title "Agalsidase treatment for Fabry disease: Uses and rivalries" @default.
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