Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.,Genetics in Medicine

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Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-11-01 , DOI: 10.1038/gim.2018.29
Julie B Eisengart ₁ , Kyle D Rudser ₂ , Yong Xue ₃ , Paul Orchard ₄ , Weston Miller ₄ , Troy Lund ₄ , Ans Van der Ploeg ₅ , Jean Mercer ₆ , Simon Jones ₇ , Karl Eugen Mengel ₈ , Seyfullah Gökce ₈ , Nathalie Guffon ₉ , Roberto Giugliani ₁₀ , Carolina F M de Souza ₁₀ , Elsa G Shapiro _{1,

11} , Chester B Whitley ₁₂

Affiliation

Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Division of Biostatistics, University of Minnesota, Minneapolis, Minnesota, USA.
Sanofi Genzyme Corporation, Naarden, the Netherlands.
Division of Hematology/Oncology/Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Center for Lysosomal and Metabolic Diseases, Erasmus MC University Hospital, Rotterdam, The Netherlands.
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK.
Departments of Haematology and BMT, Royal Manchester Children's Hospital, Manchester, UK.
Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center-Mainz, Mainz, Germany.
Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Bron Cedex, France.
Department of Genetics, Federal University of Rio Grande do Sul and Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
Shapiro Neuropsychology Consulting, Portland, Oregon, USA.
Department of Pediatrics and Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA.

Early treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate the blood-brain barrier (BBB) support recommendations that hematopoietic cell transplantation (HCT) treat the severe, neurodegenerative form (Hurler syndrome). Ethics precludes randomized comparison of ERT with HCT, but insight into this comparison is presented with an international cohort of patients with Hurler syndrome who received long-term ERT from a young age.

中文翻译：

Hurler 综合征全身治疗的长期结果：国际多中心比较。

早期治疗对于 I 型粘多糖贮积症 (MPS I) 至关重要，因此将其纳入新生儿筛查是合理的。酶替代疗法 (ERT) 可治疗 MPS I，但 ERT 无法穿透血脑屏障 (BBB) 的假设支持造血细胞移植 (HCT) 治疗严重神经退行性类型（Hurler 综合征）的建议。伦理学不允许对 ERT 与 HCT 进行随机比较，但通过一组从年轻时就接受长期 ERT 的 Hurler 综合征患者国际队列对这种比较进行了深入了解。

更新日期：2018-03-08

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