Pompe Disease: Current State and Future Treatments.

IF 2 4区 医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
Margot Richards, William H Frishman
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引用次数: 0

Abstract

Pompe disease is an autosomal recessive genetic disease caused by a mutation in the acid α-glucosidase (GAA) gene, which results in dysfunction of the GAA and a buildup of glycogen in lysosomes. Recently, new research has found additional causes of the disease pathology, such as the role of autophagy. Currently, the standard of care is enzyme replacement therapy (ERT). ERT has been proven to increase survival in Pompe disease as well as improve pulmonary and motor tests compared to no treatment. However, some patients do not see improvement from these treatments, and the life expectancy and quality of life of patients with Pompe disease remain low. New research focuses on gene therapy with an adeno-associated virus-mediated α-glucosidase vector (rAAV1-hGAA or rAAV1-CMV-hGAA). Gene therapy has the potential to provide longer-term treatment for patients with Pompe disease. Patients commonly experience side effects from the procedure such as pneumothorax, capnothorax, pericardial effusion, pleural effusion, lung contusion, etc. In phase I/II trials, the gene therapy has been found to be safe, result in sustained GAA levels, and have some improvements in pulmonary function. Many clinical trials are currently ongoing.

庞贝病:当前状态和未来治疗。
庞贝病是由酸性α-葡萄糖苷酶(GAA)基因突变引起的常染色体隐性遗传病,导致GAA功能障碍和溶酶体中糖原积聚。最近,新的研究发现了疾病病理的其他原因,如自噬的作用。目前,治疗的标准是酶替代疗法(ERT)。与未治疗相比,ERT已被证明可提高Pompe病的生存率,并改善肺部和运动测试。然而,一些患者并没有从这些治疗中看到改善,庞贝病患者的预期寿命和生活质量仍然很低。新的研究重点是利用腺相关病毒介导的α-葡萄糖苷酶载体(rAAV1-hGAA或rAAV1-CMV-hGAA)进行基因治疗。基因疗法有可能为庞贝病患者提供长期治疗。患者通常会经历手术的副作用,如气胸、capno胸、心包积液、胸腔积液、肺挫伤等。在I/II期试验中,基因疗法已被发现是安全的,可导致持续的GAA水平,并对肺功能有一定改善。许多临床试验目前正在进行中。
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来源期刊
Cardiology in Review
Cardiology in Review CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
4.60
自引率
0.00%
发文量
76
审稿时长
>12 weeks
期刊介绍: The mission of Cardiology in Review is to publish reviews on topics of current interest in cardiology that will foster increased understanding of the pathogenesis, diagnosis, clinical course, prevention, and treatment of cardiovascular disorders. Articles of the highest quality are written by authorities in the field and published promptly in a readable format with visual appeal
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