Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
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DOI：
10.1002/ajh.24801
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发表时间：
2017-09
影响因子：
12.8
通讯作者：
Weinreb N
中科院分区：
文献类型：
--
作者：
Mistry PK;Batista JL;Andersson HC;Balwani M;Burrow TA;Charrow J;Kaplan P;Khan A;Kishnani PS;Kolodny EH;Rosenbloom B;Scott CR;Weinreb N
本研究检验了以下假设：自 1991 年美国 (US) 批准阿糖酶/伊米苷酶替代疗法 (ERT) 以来，戈谢病 1 型 (GD1) 患者在开始治疗时严重临床表现的患病率发生了变化。来自美国戈谢国际协作组的阿糖酶/伊米苷酶治疗的 GD1 患者 注册临床试验.gov NCT00358943 按 ERT 开始时的年龄（<18、18 至 <50、≥50 岁）、ERT 开始时代（1991-1995、1996-2000、2001-2005、2006-2009）以及 ERT 前的脾切除状态进行分层。在各个年龄段中，脾切除术的患病率急剧下降。在所有年龄组中，脾切除患者的骨表现比未切除脾的患者更常见。在某些年龄组中，骨表现的发生率因时代而异：在后来的时代，未切除脾脏的患者缺血性骨事件（儿童患者）和骨危象（儿童患者和 18 至 <50 岁的成人）的发生率较低；脾切除的成人（18 至 <50 岁）患者在后来的时代中缺血性骨事件和骨危象的发生率较低。引入 ERT 二十多年来，脾切除术和相关骨骼并发症的发生率急剧下降。与此同时，诊断和开始 ERT 之间的时间间隔也缩短了，尤其是在患有最严重疾病的儿科患者中。总之，这些发现表明，自从引入阿糖酶/伊米苷酶 ERT 以来，美国已经建立了最佳护理标准，以预防 GD1 的破坏性并发症。
This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase‐treated GD1 patients from the International Collaborative Gaucher Group Gaucher Registry clinicaltrials.gov NCT00358943 were stratified by age at ERT initiation (<18, 18 to <50, ≥50 years), era of ERT initiation (1991‐1995, 1996‐2000, 2001‐2005, 2006‐2009), and splenectomy status pre‐ERT. Prevalence of splenectomy decreased dramatically across the eras among all age groups. Bone manifestations were more prevalent in splenectomized patients than non‐splenectomized patients in all age groups. Prevalence of bone manifestations differed across eras in certain age groups: non‐splenectomized patients had a lower prevalence of ischemic bone events (pediatric patients) and bone crisis (pediatric patients and adults 18 to <50 years) in later eras; splenectomized adult (18 to <50 years) patients had a lower prevalence of ischemic bone events and bone crisis in later eras. Over two decades after the introduction of ERT, the prevalence of splenectomy and associated skeletal complications has declined dramatically. Concomitantly, the interval between diagnosis and initiation of ERT has decreased, most strikingly in pediatric patients who have the most severe disease. Together, these findings suggest that since the introduction of alglucerase/imiglucerase ERT, optimal standard of care has become established in the US to prevent destructive complications of GD1.
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影响因子：
4.2
作者：
Maaswinkel-Mooij, P;Hollak, C;Pöll, R
通讯作者：
Pöll, R
影响因子：
3.8
作者：
Mistry, PK;Sirrs, S;Goldman, ME
通讯作者：
Goldman, ME
影响因子：
158.5
作者：
BARTON, NW;BRADY, RO;YU, KT
通讯作者：
YU, KT
影响因子：
3
作者：
FLESHNER, PR;AUFSES, AH;ELIAS, R
通讯作者：
ELIAS, R
DOI：
10.1182/asheducation-2012.1.13
发表时间：
2012-12-01
期刊：
HEMATOLOGY-AMERICAN SOCIETY HEMATOLOGY EDUCATION PROGRAM
影响因子：
--
作者：
Grabowski, Gregory A.
通讯作者：
Grabowski, Gregory A.