Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview.
Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview.
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庞贝疾病：一种临床，诊断和治疗性概述。
DOI：
10.1007/s11940-022-00736-1
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发表时间：
2022-11
影响因子：
2
通讯作者：
Mozaffar, Tahseen
中科院分区：
文献类型：
--
作者：
Stevens, David;Milani-Nejad, Shadi;Mozaffar, Tahseen
关键词：
本文综述了庞贝氏症的临床表现，并提供了一个更新的诊断策略。我们将审查现有的治疗方案。我们检查了新批准的治疗方法以及即将到来的治疗方法。我们还提供了对这种疾病的临床管理和研究中未满足的需求的评论。2015年3月，庞贝氏症被添加到推荐的统一筛查小组（RUSP），从那时起，许多州已将庞贝氏症添加到其新生儿筛查（NBS）计划的疾病名单中。从这些项目中获得的数据正在修正我们对庞贝氏症发病率的认识。于二零二一年，两项涉及新型酶替代疗法（ERT）的随机对照试验已完成，其中一项新产品已获FDA批准并上市，而另一项产品将于秋季接受FDA审查。两种新ERT均未显示出优于标准治疗产品阿糖苷酶的上级效果。这些新形式的ERT的长期有效性尚不清楚。除了多种不同的基因治疗策略外，还在开发更新版本的ERT，以提供GAA，GAA是负责产生酸性α-葡萄糖苷酶的基因，这是庞贝氏症中的缺陷蛋白。糖原底物减少也在庞贝氏症和其他糖原储存障碍中发展。存在显著未满足的需求，因为其涉及庞贝氏症的临床护理和治疗以及研究。目前可用的治疗在长期内失去有效性，并且没有渗透到神经元组织中，并且在某些肌肉中的渗透不一致。目前正在开发和测试更明确的基因疗法和酶替代策略。
This review summarizes the clinical presentation and provides an update on the current strategies for diagnosis of Pompe disease. We will review the available treatment options. We examine newly approved treatments as well as upcoming therapies in this condition. We also provide commentary on the unmet needs in clinical management and research for this disease. In March 2015, Pompe disease was added to the Recommended Uniform Screening Panel (RUSP) and since then a number of states have added Pompe disease to their slate of diseases for their Newborn Screening (NBS) program. Data emerging from these programs is revising our knowledge of incidence of Pompe disease. In 2021, two randomized controlled trials involving new forms of enzyme replacement therapy (ERT) were completed and one new product is already FDA-approved and on the market, whereas the other product will come up for FDA review in the fall. Neither of the new ERT were shown to be superior to the standard of care product, alglucosidase. The long-term effectiveness of these newer forms of ERT is unclear. Newer versions of the ERT are in development in addition to multiple different strategies of gene therapy to deliver GAA, the gene responsible for producing acid alpha-glucosidase, the defective protein in Pompe Disease. Glycogen substrate reduction is also in development in Pompe disease and other glycogen storage disorders. There are significant unmet needs as it relates to clinical care and therapeutics in Pompe disease as well as in research. The currently available treatments lose effectiveness over the long run and do not have penetration into neuronal tissues and inconsistent penetration in certain muscles. More definitive gene therapy and enzyme replacement strategies are currently in development and testing.
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影响因子：
12.4
作者：
Ding, EY;Hu, HM;Amalfitano, A
通讯作者：
Amalfitano, A
DOI：
10.1097/01.gim.0000218152.87434.f3
发表时间：
2006-05
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Kishnani PS;Steiner RD;Bali D;Berger K;Byrne BJ;Case LE;Crowley JF;Downs S;Howell RR;Kravitz RM;Mackey J;Marsden D;Martins AM;Millington DS;Nicolino M;O'Grady G;Patterson MC;Rapoport DM;Slonim A;Spencer CT;Tifft CJ;Watson MS
通讯作者：
Watson MS
影响因子：
8.8
作者：
Amalfitano, A;Bengur, AR;Chen, YT
通讯作者：
Chen, YT
影响因子：
14.5
作者：
ENGEL, AG
通讯作者：
ENGEL, AG
影响因子：
3.7
作者：
Herzog A;Hartung R;Reuser AJ;Hermanns P;Runz H;Karabul N;Gökce S;Pohlenz J;Kampmann C;Lampe C;Beck M;Mengel E
通讯作者：
Mengel E