神经肌肉疾病患者的基因疗法和呼吸系统预后。

IF 2.2 3区医学 Q2 PEDIATRICS

Current opinion in pediatrics Pub Date : 2024-04-09 DOI:10.1097/MOP.0000000000001352

Diana Chen, Jeff Ni, MyMy Buu

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引用次数: 0

摘要

综述目的基因疗法对脊髓性肌萎缩症和杜氏肌营养不良症患者的临床病程产生了重大影响。护理这些患者的临床医生和治疗师希望了解呼吸系统后遗症的变化以及对治疗患者临床护理的影响。为了设计临床试验，需要了解这些疾病的自然病史。呼吸参数并非临床试验的主要结果指标。摘要基因疗法能够稳定或改善脊髓性肌萎缩症和杜氏肌营养不良症患者的呼吸系统后遗症。需要对这些结果进行标准化报告，以便为今后修订临床治疗标准和实践指南提供参考。

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Genetic therapies and respiratory outcomes in patients with neuromuscular disease.

PURPOSE OF REVIEW Genetic therapies made a significant impact to the clinical course of patients with spinal muscular atrophy and Duchenne muscular dystrophy. Clinicians and therapists who care for these patients want to know the changes in respiratory sequelae and implications for clinical care for treated patients. RECENT FINDINGS Different genetic therapy approaches have been developed to replace the deficient protein product in spinal muscular atrophy and Duchenne muscular dystrophy. The natural history of these conditions needed to be understood in order to design clinical trials. Respiratory parameters were not the primary outcome measures for the clinical trials. The impact of these therapies is described in subsequent clinical trial reports or real-world data. SUMMARY Genetic therapies are able to stabilize or improve the respiratory sequelae in patients with spinal muscular atrophy and Duchenne muscular dystrophy. Standardized reporting of these outcomes is needed to help inform the future revisions of clinical standards of care and practice guidelines.

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来源期刊

Current opinion in pediatrics 医学-小儿科

CiteScore

6.20

自引率

0.00%

发文量

184

审稿时长

6-12 weeks

期刊介绍： Current Opinion in Pediatrics is a reader-friendly resource which allows the reader to keep up-to-date with the most important advances in the pediatric field. Each issue of Current Opinion in Pediatrics contains three main sections delivering a diverse and comprehensive cover of all key issues related to pediatrics; including genetics, therapeutics and toxicology, adolescent medicine, neonatology and perinatology, and orthopedics. Unique to Current Opinion in Pediatrics is the office pediatrics section which appears in every issue and covers popular topics such as fever, immunization and ADHD. Current Opinion in Pediatrics is an indispensable journal for the busy clinician, researcher or student.