The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Open accessAbstract
Background: Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We assessed the 10-year outcome of recombinant α-galactosidase A therapy. Methods: The outcomes (severe clinical events, renal function, cardiac structure) of 52/58 patients with classic Fabry disease from the phase 3 clinical trial and extension study, and the Fabry Registry were evaluated. Disease progression rates for patients with low renal involvement (LRI, n=32) or high renal involvement (HRI, n=20) at baseline were assessed. Results: 81% of patients (42/52) did not experience any severe clinical event during the treatment interval and 94% (49/52) were alive at the end of the study period. Ten patients reported a total of 16 events. Patients classified as LRI started therapy 13 years younger than HRI (mean 25 years vs 38 years). Mean slopes for estimated glomerular filtration rate for LRI and HRI were −1.89 mL/min/1.73 m 2/year and −6.82 mL/min/1.73 m 2/year, respectively. Overall, the mean left ventricular posterior wall thickness and interventricular septum thickness remained unchanged and normal. Patients who initiated treatment at age ≥40 years exhibited significant increase in left ventricular posterior wall thickness and interventricular septum thickness. Mean plasma globotriaosylceramide normalised within 6 months. Conclusions: This 10-year study documents the effectiveness of agalsidase beta (1 mg/kg/2 weeks) in patients with Fabry disease. Most patients remained alive and event-free. Patients who initiated treatment at a younger age and with less kidney involvement benefited the most from therapy. Patients who initiated treatment at older ages and/or had advanced renal disease experienced disease progression.
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Cites
Longitudinal Studies on the Rate of Decline in Renal Function with Age
Lindeman, R. D., Tobin, J., & Shock, N. W. (1985) · Journal of the American Geriatrics Society · doi:10.1111/j.1532-5415.1985.tb07117.x · Cited by 1,578
Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease
Eng, C. M., Guffon, N., Wilcox, W. R., Germain, D. P., Lee, P., Waldek, S., Caplan, L., Linthorst, G. E., & Desnick, R. J. (2001) · New England Journal of Medicine · doi:10.1056/nejm200107053450102 · Cited by 1,559
Self-citationEnzyme Replacement Therapy in Fabry Disease: A Randomized Controlled Trial
Schiffmann, R., Kopp, J. B., Austin III, H. A., Sabnis, S., Moore, D. F., Weibel, T., Balow, J. E., & Brady, R. O. (2001) · JAMA · doi:10.1001/jama.285.21.2743 · Cited by 1,302
Germain, D. P. (2010) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-5-30 · Cited by 1,198
Self-citationAgalsidase-Beta Therapy for Advanced Fabry Disease: A Randomized Trial
Banikazemi, M., Bultas, J., Waldek, S., Wilcox, W. R., Whitley, C. B., McDonald, M., Finkel, R., Packman, S., Bichet, D. G., Warnock, D. G., et al. (2007) · Annals of Internal Medicine · doi:10.7326/0003-4819-146-2-200701160-00148 · Cited by 569
Self-citationFemales with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
Wilcox, W. R., Oliveira, J. P., Hopkin, R. J., Ortiz, A., Banikazemi, M., Feldt-Rasmussen, U., Sims, K., Waldek, S., Pastores, G. M., Lee, P., et al. (2008) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.09.013 · Cited by 544
Self-citationGermain, D. P., Waldek, S., Banikazemi, M., Bushinsky, D. A., Charrow, J., Desnick, R. J., Lee, P., Loew, T., Vedder, A. C., Abichandani, R., et al. (2007) · Journal of the American Society of Nephrology · doi:10.1681/asn.2006080816 · Cited by 438
Self-citationFabry disease: Guidelines for the evaluation and management of multi-organ system involvement
Eng, C. M., Germain, D. P., Banikazemi, M., Warnock, D. G., Wanner, C., Hopkin, R. J., Bultas, J., Lee, P., Sims, K., Brodie, S. E., et al. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000237866.70357.c6 · Cited by 411
Self-citationLong-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease
Wilcox, W. R., for the International Fabry Disease Study Group, Banikazemi, M., Guffon, N., Waldek, S., Lee, P., Linthorst, G. E., Desnick, R. J., & Germain, D. P. (2004) · The American Journal of Human Genetics · doi:10.1086/422366 · Cited by 404
Self-citationSchiffmann, R., Warnock, D. G., Banikazemi, M., Bultas, J., Linthorst, G. E., Packman, S., Sorensen, S. A., Wilcox, W. R., & Desnick, R. J. (2009) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfp031 · Cited by 368
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Cited by
Fabry disease revisited: Management and treatment recommendations for adult patients
Ortiz, A., Germain, D. P., Desnick, R. J., Politei, J., Mauer, M., Burlina, A., Eng, C., Hopkin, R. J., Laney, D., Linhart, A., et al. (2018) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2018.02.014 · Cited by 650
Self-citationHughes, D. A., Nicholls, K., Shankar, S. P., Sunder-Plassmann, G., Koeller, D., Nedd, K., Vockley, G., Hamazaki, T., Lachmann, R., Ohashi, T., et al. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104178 · Cited by 386
Self-citationWilde, A. A. M., Semsarian, C., Márquez, M. F., Shamloo, A. S., Ackerman, M. J., Ashley, E. A., Sternick, E. B., Barajas-Martinez, H., Behr, E. R., Bezzina, C. R., et al. (2022) · Europace · doi:10.1093/europace/euac030 · Cited by 380
Zhu, X., Yin, L., Theisen, M., Zhuo, J., Siddiqui, S., Levy, B., Presnyak, V., Frassetto, A., Milton, J., Salerno, T., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.02.003 · Cited by 165
Metadata
- Authors
- Germain, D. P., Charrow, J., Desnick, R. J., Guffon, N., Kempf, J., Lachmann, R. H., Lemay, R., Linthorst, G. E., Packman, S., Scott, C. R., Waldek, S., Warnock, D. G., Weinreb, N. J., & Wilcox, W. R.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2015-03-20
- Volume
- 52
- Issue
- 5
- Pages
- 353-358
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2015981234
- Cited by
- 368
- References
- 22
- FWCI
- 24.32
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Germain, D. P., Charrow, J., Desnick, R. J., Guffon, N., Kempf, J., Lachmann, R. H., Lemay, R., Linthorst, G. E., Packman, S., Scott, C. R., Waldek, S., Warnock, D. G., Weinreb, N. J., & Wilcox, W. R. (2015). Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2014-102797
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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