2022 Congenital Muscle Disease Scientific Symposium

CURE CMD(治疗先天性肌营养不良症)寻求美国国立卫生研究院的支持 健康与联合的患者倡导组织合作建立基础优势 (AFBS，专注于线状肌病或NM)和团队Titin(专注于钛病或TTN) 2022年先天性肌肉疾病科学研讨会，将于2022年6月30日至7月3日举行。使用 症状学、护理管理和研究界的显著重叠， 来自每个组织的代表认为，与会者将从信息中受益匪浅 交流与合作。 会议的最终目的是加快临床试验、治疗、 最终，治愈了先天性肌肉疾病。2022年的活动将是第二次 这种类型的会议，在会议后的两年里，取得了多项进展 为会议上代表的三种条件中的每一种都作出了规定。主要目标是： --推出新的以先天性肌肉疾病为重点的研究项目。寄宿病人 倡导团体自2019年以来资助了13个新的研究项目--S面对面的召开； -讨论创建创新平台的下一步，如NCATS主导的平台 载体基因治疗(PAVE-GT)，利用常见的突变类别和 跨CMD亚型的病理生理途径； -评估和更新每个子类型的当前特定研究计划和优先事项 疾病，目前自2019年以来，并突出每一个在临床试验的道路上的不足之处； -增加罕见神经肌肉疾病研究人员之间的交流。尽管 这些疾病从组织学和遗传学的角度来看是不同的，许多治疗方法 模式和干预在性质上将是相似的。信息共享是关键； -讨论围绕心脏和心脏的研究和科学进步的机会 肺功能，两个对健康和质量影响最大的系统 先天性肌肉疾病社区的生活； -创建、塑造和完善研究项目和计划，并提供清晰的患者意见 需求和设计。与受影响的个人和临床医生进行讨论将有助于确保 研究是对社会需求的回应。 Cure CMD、AFBS和Team Tiin都与研究人员和行业合作，以加快 对于临床试验，这些社区已经为下一次协作会议做好了准备。

Cure CMD (Cure Congenital Muscular Dystrophy) seeks support from the National Institutes of Health to collaborate with aligned patient advocacy organizations A Foundation Building Strength (AFBS, focused on Nemaline Myopathy or NM) and Team Titin (focused on Titinopathy or TTN) for the 2022 Congenital Muscle Disease Scientific Symposium, to be held June 30 - July 3, 2022. With significant overlap in symptomatology, care management, and research communities, representatives from each organization believe attendees will benefit significantly from information exchange and collaboration. The ultimate aim of the meeting is to accelerate progress toward clinical trials, treatments, and eventually, a cure for congenital muscle disorders. The 2022 event would be the second meeting of this type, and in the two years since the meeting, multiple advancements have been made for each of the three conditions represented at the conference. Key objectives are to: - Introduce new congenital muscle disease-focused research projects. The host patient advocacy groups are funding 13 new research projects since 2019’s in-person convening; - Discuss next steps for creating innovative platforms like the NCATS-led Platform Vector Gene Therapy (PaVe-GT), taking advantage of common mutation classes and pathophysiological pathways across CMD subtypes; - Assess and update current subtype-specific research plans and priorities for each disease, current since 2019, and highlight deficiencies in each on the path to clinical trials; - Increase communication among researchers of rare neuromuscular disease. Though these diseases are distinct from a histological and genetic standpoint, many treatment modalities and interventions will be similar in nature. Information-sharing is key; - Discuss research and opportunities for scientific advancement around cardiac and pulmonary function, two systems that have the greatest impact on health and quality of life for the congenital muscle disease community; - Create, shape, and refine research projects and plans with clear patient input on need and design. Discussions with affected individuals and clinicians will help ensure that research is responsive to the community's needs. With Cure CMD, AFBS, and Team Titin all working with researchers and industry to speed toward clinical trials, these communities are primed for the next collaborative meeting.