Dystonia Coalition Administrative Supplement

肌张力障碍联盟行政补充

基本信息

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
项目类别：
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&apos 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

项目摘要

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.

项目概要 Dystonia 联盟的主要目标是为发展和提供必要的基础。对孤立性肌张力障碍（以前称为“原发性”肌张力障碍）的新疗法的评估。常见的亚型包括颈肌张力障碍（也称为斜颈）、眼睑痉挛和相关的颅面肌张力障碍肌张力障碍（有时称为梅格综合征）、喉肌张力障碍（也称为痉挛性发声困难）和肢体肌张力障碍（例如作家痉挛、音乐家肌张力障碍、足部肌张力障碍）。例如节段性和多灶性肌张力障碍，以及影响更广泛区域的不太常见的全身性肌张力障碍尽管在理解肌张力障碍的基本生物学方面取得了巨大进展，但他们尚未转化为对患者有效的治疗方法。由于对这些疾病的自然史和反应变化的了解不完整而受到阻碍现有疗法缺乏监测严重程度的客观工具，并且缺乏有用的生物标志物。 Dystonia Coalition 在解决先前资助周期中的许多转化障碍方面取得了巨大进展。当前的更新应用程序利用了这一成功，并针对转化工作中持续存在的挑战。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。项目 1 是对孤立性肌张力障碍所有亚型的自然史研究，并充当存储库。该项目为任何新疗法提供了必要的基线数据。项目 2 解决了响应现有的个体和时间变化因为这些治疗是许多类型肌张力障碍的标准治疗方法，描述这些变异来源为任何新颖的附加疗法提供了必需的基线数据项目 3 侧重于开发新技术作为客观工具用于评估最常见肌张力障碍亚型的严重程度，这些工具是有价值的结果。项目 4 作为一个集中的生物样本库资源，用于收集临床试验的措施。针对肌张力障碍所有亚型的生物材料，并对潜在的相关生物标志物进行初步研究。然后，这些材料可用于探索不同类型的潜在诊断和严重程度生物标志物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，肌张力障碍联盟开始于 14 个地点，但最终聘请了 49 个地点来开展北美、欧洲、以色列、肌张力障碍患者倡导团体在多个层面参与所有这些活动。