Dystonia Coalition Administrative Supplement

肌张力障碍联盟行政补充

• 批准号: 10600514
• 负责人: HYDER A JINNAH
• 金额: $ 17.46万
• 依托单位: EMORY UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-01 至 2023-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10600514
• 关键词: Address; Administrative Supplement; Advanced Development; Affect; Area; Assessment tool; Australia; Biocompatible Materials; Biological Markers; Biology; Blepharospasm; Blood; Botulinum Toxins; Cervical Dystonia; Client satisfaction; Clinical Research; Clinical Trials; Collaborations; Collection; Country; DNA; Data; Development; Diagnosis; Diagnostic; Disease; Dyskinetic syndrome; Dystonia; Europe; Evaluation; Evolution; Fostering; Foundations; Funding; Genetic Determinism; Genomics; Goals; Human Genetics; Individual; Industry; International; Israel; Knowledge; Length; Limb Dystonia; Measurement; Measures; Meige Syndrome; Methodology; Modeling; Monitor; Muscle Contraction; Myalgia; National Institute of Neurological Disorders and Stroke; Natural History; North America; Outcome Measure; Pathway interactions; Patients; Phenotype; Pilot Projects; Policies; Posture; Primary Dystonias; Proteomics; Rare Diseases; Research; Research Personnel; Research Project Grants; Resources; Series; Severities; Severity of illness; Site; Smooth Muscle; Solid; Source; Spasm; Spastic Dysphonias; Symptoms; Syndrome; Telemedicine; Testing; Torticollis; Translating; Translational Research; Variant; Writer' s cramp neurosis; base; biobank; biomarker discovery; career; clinical outcome measures; cohort; collaborative environment; craniofacial; effective therapy; efficacy evaluation; epigenomics; follow-up; foot; genetic resource; interest; meetings; metabolomics; multidisciplinary; musician; new technology; novel; novel therapeutics; patient advocacy group; potential biomarker; programs; recruit; repository; response; standard care; standard of care; success; tool; transcriptomics; translational barrier; translational medicine

PROJECT SUMMARY The main goal of the Dystonia Coalition is to provide the foundations necessary for the development and evaluation of novel treatments for the isolated dystonias, previously known as “primary” dystonias. The most common subtypes include cervical dystonia (also known as torticollis), blepharospasm and related craniofacial dystonias (sometimes called Meige syndrome), laryngeal dystonia (also known as spasmodic dysphonia), and limb dystonias (e.g., writer’s cramp, musician’s dystonias, foot dystonia). Also included are various combinations such as segmental and multifocal dystonias, and less common generalized dystonias affecting broader areas the body. Although there have been dramatic advances in understanding the basic biology of dystonia, they have not yet been translated into effective treatments for patients. The development of new treatments has been hampered by incomplete knowledge regarding the natural history of these disorders and variations in responses to existing therapies, a lack of objective tools to monitor severity, and the absence of useful biomarkers. The Dystonia Coalition has made great progress in addressing many translational barriers during prior funding cycles. The current renewal application leverages this success and targets ongoing challenges in the translational effort. It is organized into Administrative Unit, a Pilot Projects Program, a Career Enhancement Program, and four Clinical Research Projects. The Clinical Research Projects each focus on key unmet needs in the development of new therapies. Project 1 is a natural history study of all subtypes of isolated dystonias, and acts as a repository for distribution of data to investigators. This project provides essential baseline data for any novel therapy that proposes to reduce progression. Project 2 addresses individual and temporal variations in response to existing therapy with botulinum toxin. Because these treatments are standard of care for many types of dystonia, delineating these sources of variation provides baseline data essential for any novel add-on therapy that proposes to mitigate symptoms. Project 3 focuses on the development of novel technologies as objective tools for assessing the severity of the most common subtypes of dystonia. These tools are valuable outcome measures for clinical trials. Project 4 functions as a centralized biorepository resource for collection of biomaterials for all subtypes of dystonia and implements preliminary studies of potential relevant biomarkers. These materials may then be used to explore potential diagnostic and severity biomarkers for different types of dystonia. To facilitate rapid recruitment for all of these projects and to encourage collaboration, the Dystonia Coalition has maintained a unique open-door policy that permits qualified centers to contribute to specific projects according to their special interests and abilities. During prior funding cycles, the Dystonia Coalition started with 14 sites but ultimately engaged 49 sites to conduct the various projects across North America, Europe, Israel, and Australia. Dystonia Patient Advocacy Groups participate in all of these activities at multiple levels.

项目摘要 肌张力障碍联盟的主要目标是为发展提供必要的基础， 评价孤立性肌张力障碍（以前称为“原发性”肌张力障碍）的新治疗方法。最 常见的亚型包括颈部肌张力障碍（也称为斜颈）、眼睑痉挛和相关的颅面神经 肌张力障碍（有时称为Meige综合征），喉肌张力障碍（也称为痉挛性发声障碍），以及 肢体肌张力障碍（例如，书写痉挛、音乐家肌张力障碍、足部肌张力障碍）。还包括各种组合 如节段性和多灶性肌张力障碍，以及影响更广泛区域的不常见的全身性肌张力障碍 身体虽然在理解肌张力障碍的基础生物学方面已经取得了巨大的进展， 尚未转化为对患者有效的治疗方法。新疗法的发展 由于对这些疾病的自然史和反应的变化的不完全了解， 现有的治疗方法，缺乏客观的工具来监测严重程度，以及缺乏有用的生物标志物。的 肌张力障碍联盟在之前的资助周期中在解决许多翻译障碍方面取得了很大进展。 当前的续订应用程序利用了这一成功，并针对转换工作中的持续挑战。 它分为行政单位，试点项目计划，职业提升计划和四个 临床研究项目。每个临床研究项目都侧重于开发中未满足的关键需求 新的疗法。项目1是孤立性肌张力障碍的所有亚型的自然史研究，并作为一个知识库 用于向研究者分发数据。该项目为任何新疗法提供了基本的基线数据， 建议减少进展。项目2处理针对现有技术的个体和时间变化， 肉毒杆菌毒素治疗因为这些治疗是许多类型肌张力障碍的标准治疗， 描述这些变异的来源为任何新的附加治疗提供了基本的基线数据， 建议减轻症状。项目3侧重于开发作为客观工具的新技术 用于评估最常见的肌张力障碍亚型的严重程度。这些工具是有价值的成果 临床试验的措施。项目4作为一个集中的生物储存库资源， 生物材料的所有亚型的肌张力障碍，并实施潜在的相关生物标志物的初步研究。 然后，这些材料可以用于探索不同类型的肿瘤的潜在诊断和严重程度生物标志物。 肌张力障碍为了促进所有这些项目的快速招募并鼓励合作，肌张力障碍 联盟保持了一个独特的开放政策，允许合格的中心为特定项目做出贡献 根据他们的特殊兴趣和能力。在之前的资助周期中，肌张力障碍联盟从 14个地点，但最终有49个地点参与了北美、欧洲、以色列、 和澳大利亚肌张力障碍患者倡导团体在多个层面参与所有这些活动。