Dystonia Coalition- CRP 1

摘要：孤立性肌张力障碍（以前称为原发性肌张力障碍）是一组不同的罕见肌张力障碍。 以不自主、持续的肌肉收缩为特征的疾病，可能导致扭曲和重复 运动、持续运动或异常姿势。这些孤立的肌张力障碍通常以不同的方式开始 身体部位，包括面部、颈部、喉部或四肢，但传播的风险和这些部位的自然史 疾病大多来自回顾性审查，受到在任一临床地点见到的患者相对较少的限制。 该项目的主要目的是扩展我们对 4 种孤立性肌张力障碍的前瞻性自然史研究： 始于上面部的眼睑痉挛 (BSP)；颈部肌张力障碍（CD）始于颈部；喉部 始于喉部的肌张力障碍（LD）；以及从一侧肢体开始的肢体肌张力障碍。这种自然 历史项目将使用为 Dystonia Coalition (DC) 开发的基于网络的工具来收集 来自美国、加拿大、澳大利亚、意大利、德国、 法国和英国将限制每种孤立性肌张力障碍亚型的招募，以确保广泛的招募 所有亚型的分布足以解决我们的主要问题。我们将通过基于网络的方式收集数据 满足我们美国和国际招聘网站要求的安全系统。虽然 该项目的主要目的是确定这些孤立的肌张力障碍的自然史，我们还提供 轻松访问数据，通过与内部和外部研究人员共享数据来促进协作 DC，正如我们已经成功做到的那样。过去的招聘结合了 37 个国际站点的努力 收集超过 3000 名隔离患者的人口统计、临床、评分量表、视频和生物样本数据 肌张力障碍。我们有关于孤立性肌张力障碍自然史的大量初步数据 来自 CD 患者的最大数据量。这项“孤立性肌张力障碍的自然历史”提案将 扩展和加强这些研究。我们提出了 5 个具体目标：1）确定 BSP 的自然历史； 2） 确定 CD 的自然病程； 3）确定LD的自然病程； 4) 确定自然历史 肢体肌张力障碍； 5) 促进与 DC 内部和外部的调查人员共享数据。这个项目 允许研究不同的孤立肌张力障碍并促进这些疾病之间的比较。我们也 将继续与私人患者倡导团体合作，支持合作地点的数据收集。

ABSTRACT: The isolated dystonias (previously known as primary dystonias) are a diverse group of rare disorders characterized by involuntary, sustained muscle contractions that may cause twisting and repetitive movements, sustained movements or abnormal postures. These isolated dystonias typically begin in different body parts including the face, neck, larynx or limbs but the risk of spread and the natural history of these disorders mostly come from retrospective reviews limited by relatively few patients seen at any one clinical site. The primary purpose of this project is to extend our prospective natural history studies of 4 isolated dystonias: blepharospasm (BSP) that begins in the upper face; cervical dystonia (CD) that begins in the neck; laryngeal dystonia (LD) that begins in the larynx; and limb dystonia that begins in the one of the limbs. This Natural History project will use web-based tools already developed for the Dystonia Coalition (DC) to collect demographic, clinical, and video data from existing sites in the U.S.A., Canada, Australia, Italy, Germany, France and the U.K. Recruitment for each subtype of isolated dystonia will be capped to ensure broad distribution of all subtypes adequate to address our primary questions. We will collect data via a web-based secured system that has met the requirements of our U.S. and international recruiting sites. Although the primary purpose of this project is to determine the natural history of these isolated dystonias, we also provide easy access to data to facilitate collaborations through data sharing with investigators within and external to the DC, as we have successfully done. Past recruitment combined the efforts of 37 international sites to collect demographic, clinical, rating scale, video and biosample data from more than 3000 people with isolated dystonias. We have substantial preliminary data on the natural history of the isolated dystonias with the greatest amount of data from people with CD. This proposal for “Natural History of the Isolated Dystonias” will extend and enhance these studies. We propose 5 specific aims: 1) determine the natural history of BSP; 2) determine the natural history of CD; 3) determine the natural history of LD; 4) determine the natural history of limb dystonia; and 5) facilitate sharing of data with investigators within and external to the DC. This project permits studies of the different isolated dystonias and facilitates comparisons across these disorders. We also will continue to partner with private patient advocacy groups to support data collection at collaborating sites.