Academic Journal
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium
| العنوان: | Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium |
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| المؤلفون: | Ditters I. A. M., Huidekoper H. H., Kruijshaar M. E., Rizopoulos D., Hahn A., Mongini T. E., Labarthe F., Tardieu M., Chabrol B., Brassier A., Parini R., Parenti G., van der Beek N. A. M. E., van der Ploeg A. T., van den Hout J. M. P., Mengel E., Hennermann J., Smitka M., Muschol N., Marquardt T., Marquardt M., Thiels C., Spada M., Pagliardini V., Menni F., della Casa R., Deodato F., Gasperini S., Burlina A., Donati A., Pichard S., Feillet F., Huet F., Mention K., Eyer D., Kuster A., Espil Taris C., Lefranc J., Barth M., Bruel H., Chevret L., Pitelet G., Pitelet C., Rivier F., Dobbelaere D. |
| المساهمون: | Ditters I.A.M., Huidekoper H.H., Kruijshaar M.E., Rizopoulos D., Hahn A., Mongini T.E., Labarthe F., Tardieu M., Chabrol B., Brassier A., Parini R., Parenti G., van der Beek N.A.M.E., van der Ploeg A.T., van den Hout J.M.P., Mengel E., Hennermann J., Smitka M., Muschol N., Marquardt T., Marquardt M., Thiels C., Spada M., Pagliardini V., Menni F., della Casa R., Deodato F., Gasperini S., Burlina A., Donati A., Pichard S., Feillet F., Huet F., Mention K., Eyer D., Kuster A., Espil Taris C., Lefranc J., Barth M., Bruel H., Chevret L., Pitelet G., Pitelet C., Rivier F., Dobbelaere D. |
| سنة النشر: | 2022 |
| المجموعة: | Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto) |
| مصطلحات موضوعية: | Cardiomyopathy, Hypertrophic, Europe, Human, Infant, Walking, alpha-Glucosidase, Dose-Response Relationship, Drug, Enzyme Replacement Therapy, Glycogen Storage Disease Type II |
| الوصف: | Background: Enzyme replacement therapy (ERT) with alglucosidase alfa has been found to improve outcomes in patients with classic infantile Pompe disease, who without treatment typically die before the age of 1 year. Variable responses to the standard recommended dosage have led to alternative dosing strategies. We aimed to assess the effect of real-world ERT regimens on survival and walking ability in these patients. Methods: In this observational cohort study, we obtained data collected as part of a collaborative study within the European Pompe Consortium on patients with classic infantile Pompe disease from France, Germany, Italy, and the Netherlands diagnosed between Oct 26, 1998 and March 8, 2019. Eligible patients had classic infantile Pompe disease with a disease onset and proven diagnosis before age 12 months, and a hypertrophic cardiomyopathy. A proven diagnosis of classic infantile Pompe disease was defined as a confirmed deficiency of α-glucosidase in leukocytes or lymphocytes, fibroblasts or muscle, or two pathogenic GAA variants in trans, or both. We collected data on demographics, GAA variants, ERT dosage, age at death, and walking ability. We analysed the effects of ERT dosage on survival and walking ability using Cox regression, Kaplan-Meier curves, and log-rank tests. Findings: We included 124 patients with classic infantile Pompe disease, of whom 116 were treated with ERT (median age at start of treatment 3·3 months [IQR 1·8–5·0, range 0·03–11·8]). During follow-up (mean duration 60·1 months [SD 57·3]; n=115), 36 (31%) of 116 patients died. 39 different ERT dosing regimens were applied. Among the 64 patients who remained on the same dosage, 16 (52%) of 31 patients on the standard dosage (20 mg/kg every other week), 12 (80%) of 15 patients on an intermediate dosage (20 mg/kg per week or 40 mg/kg every other week), and 16 (89%) of 18 patients on the high dosage (40 mg/kg per week) were alive at last follow-up. Survival was significantly improved in the high dosage group compared with the standard ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/34822769; volume:6; issue:1; firstpage:28; lastpage:37; numberofpages:10; journal:THE LANCET CHILD & ADOLESCENT HEALTH; http://hdl.handle.net/2318/1858771; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121122562 |
| DOI: | 10.1016/S2352-4642(21)00308-4 |
| الاتاحة: | http://hdl.handle.net/2318/1858771 https://doi.org/10.1016/S2352-4642(21)00308-4 |
| رقم الانضمام: | edsbas.54A8E9B4 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/S2352-4642(21)00308-4 |
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