X-linked myotubular myopathy: an untreated treatable disease.

IF 3.6 3区 医学 Q2 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Expert Opinion on Biological Therapy Pub Date : 2025-04-01 Epub Date: 2025-03-06 DOI:10.1080/14712598.2025.2473430
Cristina Martin, Laurent Servais
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引用次数: 0

Abstract

Introduction: X-linked myotubular myopathy (XLMTM) is a life-threatening congenital disorder characterized by severe respiratory and motor impairment. This disease presents significant therapeutic challenges, with various strategies being explored to address its underlying pathology. Among these approaches, gene replacement therapy has demonstrated substantial functional improvements in clinical trials. However, safety issues emerged across different therapeutic approaches, highlighting the need for further research.

Areas covered: This review provides a comprehensive analysis of the data gathered from natural history studies, preclinical models and clinical trials, with a particular focus on gene replacement therapy for XLMTM. The different therapeutic strategies are addressed, including their outcomes and associated safety concerns.

Expert opinion: Despite the encouraging potential of gene therapy for XLMTM, the occurrence of safety challenges emphasizes the urgent need for a more comprehensive understanding of the disease's complex phenotype. Enhancing preclinical models to more accurately mimic the full spectrum of disease manifestations will be crucial for optimizing therapeutic strategies and reducing risks in future clinical applications.

x连锁肌小管肌病:一种无法治疗的疾病。
简介:x连锁肌小管肌病(XLMTM)是一种危及生命的先天性疾病,其特征是严重的呼吸和运动障碍。这种疾病提出了重大的治疗挑战,正在探索各种策略来解决其潜在的病理。在这些方法中,基因替代疗法已经成为最有希望的,在临床试验中显示出实质性的功能改善。然而,安全性问题在不同的治疗方法中出现,突出了进一步研究的必要性。涵盖领域:本综述对自然史研究、临床前模型和临床试验收集的数据进行了全面分析,特别关注XLMTM的基因替代疗法。讨论了不同的治疗策略,包括其结果和相关的安全问题。专家意见:尽管XLMTM基因治疗的潜力令人鼓舞,但安全性挑战的发生强调了迫切需要更全面地了解该疾病的复杂表型。加强临床前模型以更准确地模拟疾病的全谱表现,对于优化治疗策略和降低未来临床应用中的风险至关重要。
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来源期刊
Expert Opinion on Biological Therapy
Expert Opinion on Biological Therapy 医学-生物工程与应用微生物
CiteScore
8.60
自引率
0.00%
发文量
96
审稿时长
3-8 weeks
期刊介绍: Expert Opinion on Biological Therapy (1471-2598; 1744-7682) is a MEDLINE-indexed, international journal publishing peer-reviewed research across all aspects of biological therapy. Each article is structured to incorporate the author’s own expert opinion on the impact of the topic on research and clinical practice and the scope for future development. The audience consists of scientists and managers in the healthcare and biopharmaceutical industries and others closely involved in the development and application of biological therapies for the treatment of human disease. The journal welcomes: Reviews covering therapeutic antibodies and vaccines, peptides and proteins, gene therapies and gene transfer technologies, cell-based therapies and regenerative medicine Drug evaluations reviewing the clinical data on a particular biological agent Original research papers reporting the results of clinical investigations on biological agents and biotherapeutic-based studies with a strong link to clinical practice Comprehensive coverage in each review is complemented by the unique Expert Collection format and includes the following sections: Expert Opinion – a personal view of the data presented in the article, a discussion on the developments that are likely to be important in the future, and the avenues of research likely to become exciting as further studies yield more detailed results; Article Highlights – an executive summary of the author’s most critical points.
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