个性化治疗之路:从天使综合症中学到的经验。

IF 1.9 4区 医学 Q1 EDUCATION, SPECIAL
Jessica Duis
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引用次数: 0

摘要

Angelman综合征(AS)是一种神经遗传性疾病,其特征包括严重的表达性语言延迟、运动障碍、共济失调、癫痫、睡眠障碍、胃肠道问题和特征性行为,包括快乐的举止、多动和兴奋性。该综合征是首批神经发育障碍之一,具有明确的有意义的治疗轨迹,大约有20家公司正在积极开发针对AS的靶向治疗方法。在此,我们强调了治疗方法的历史背景和该领域的一些挑战,这些挑战可能会影响Angelman综合征临床试验的成功,也与其他神经遗传发育障碍有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome.

Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in the field with the potential to impact the success of clinical trials for Angelman syndrome and also have relevance of other neurogenetic developmental disabilities.

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来源期刊
CiteScore
3.10
自引率
4.80%
发文量
47
期刊介绍: The American Journal on Intellectual and Developmental Disabilities (Print ISSN: 1944–7515; Online ISSN: 1944–7558) is published by the American Association on Intellectual and Developmental Disabilities. It is a scientifi c, scholarly, and archival multidisciplinary journal for reporting original contributions of the highest quality to knowledge of intellectual disabilities, its causes, treatment, and prevention.
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