دورية أكاديمية
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
| العنوان: | Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial. |
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| المؤلفون: | Wasserstein MP; Children's Hospital at Montefiore and the Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA. melissa.wasserstein@einsteinmed.edu., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Hollak C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Barbato A; Department of Clinical Medicine and Surgery, University of Naples 'Federico II', Naples, Italy., Gallagher RC; Department of Pediatrics, The University of California San Francisco, San Francisco, CA, USA., Giugliani R; Postgraduate Program in Genetics and Molecular Biology, Med Genet Serv & DR Brasil, HCPA, INAGEMP, DASA, and Casa Dos Raros, UFRGS, Porto Alegre, Brazil., Guelbert NB; Reina Fabiola University Clinic, Córdoba, Argentina., Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany., Ikezoe T; Department of Hematology, Fukushima Medical University, Fukushima, Japan., Lidove O; Department of Internal Medicine, La Croix St Simon Hospital, Paris, France., Mabe P; Clinica Santa Maria, Santiago, Chile., Mengel E; Clinical Science for LSD, SpinCS, Hochheim, Germany., Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100, Udine, Italy., Senates E; Istanbul Medeniyet University, Istanbul, Turkey., Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia., Villarrubia J; Hematology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain., Thurberg BL; Sanofi, Cambridge, MA, USA., Yarramaneni A; Sanofi, Bridgewater, NJ, USA., Armstrong NM; Sanofi, Cambridge, MA, USA., Kim Y; Sanofi, Paris, France., Kumar M; Sanofi, Bridgewater, NJ, USA. |
| المصدر: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 02; Vol. 18 (1), pp. 378. Date of Electronic Publication: 2023 Dec 02. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [London] : BioMed Central, 2006- |
| مواضيع طبية MeSH: | Niemann-Pick Disease, Type A* , Niemann-Pick Diseases*, Adult ; Humans ; Sphingomyelin Phosphodiesterase/therapeutic use ; Recombinant Proteins/therapeutic use |
| مستخلص: | Background: Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD demonstrated reductions in sphingomyelin storage, organomegaly, interstitial lung disease and impaired diffusion capacity of the lung (DL Results: Thirty-five of 36 participants continued in the extension trial, and 33 completed year 2. Change-from-baseline results are presented as least-square mean percent change ± SEM. Improvements in the cross-over group after 1 year of treatment paralleled those of the olipudase alfa group from the primary analysis, while clinical improvement continued for those receiving olipudase alfa for 2 years. In the cross-over group, percent-predicted DL Conclusion: Treatment with olipudase alfa is well tolerated and reduces manifestations of chronic ASMD with sustained efficacy. Trial registration NCT02004691 registered 9 December 2013, https://clinicaltrials.gov/ct2/show/NCT02004691. (© 2023. The Author(s).) |
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| فهرسة مساهمة: | Keywords: Acid sphingomyelinase deficiency; Dose escalation; Lung diffusing capacity; Niemann–Pick type A/B; Niemann–Pick type B; Organomegaly; Recombinant human acid sphingomyelinase |
| سلسلة جزيئية: | ClinicalTrials.gov NCT02004691 |
| المشرفين على المادة: | EC 3.1.4.12 (olipudase alfa) EC 3.1.4.12 (Sphingomyelin Phosphodiesterase) 0 (Recombinant Proteins) |
| تواريخ الأحداث: | Date Created: 20231202 Date Completed: 20231204 Latest Revision: 20231205 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC10693698 |
| DOI: | 10.1186/s13023-023-02983-0 |
| PMID: | 38042851 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1750-1172 |
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| DOI: | 10.1186/s13023-023-02983-0 |