2022 Congenital Muscle Disease Scientific Symposium

Cure CMD（治愈先天性肌营养不良症）寻求美国国立卫生研究院的支持， 健康与结盟的患者倡导组织合作 (AFBS，专注于线状肌病或NM）和Titin团队（专注于Titinopathy或TTN）， 2022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。与 在生殖医学、护理管理和研究界有显著重叠， 每个组织的代表都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、 最终治愈先天性肌肉疾病2022年的活动将是第二次 这类会议，并在会议后的两年里，多方面的进展， 为会议上代表的三种情况中的每一种情况制定。主要目标是： - 引进新的先天性肌肉疾病重点研究项目。宿主患者 自2019年亲自召集以来，倡导团体正在资助13个新的研究项目; - 讨论创建创新平台（如NCATS-lead Platform）的后续步骤 载体基因治疗（PaVe-GT），利用常见的突变类型， 跨CMD亚型的病理生理学途径; - 评估和更新目前的亚型特定的研究计划和优先事项，为每个 疾病，目前自2019年以来，并强调在临床试验的道路上每一个缺陷; - 增加罕见神经肌肉疾病研究人员之间的交流。虽然 这些疾病从组织学和遗传学观点来看是不同的，许多治疗方法 方式和干预措施的性质将类似。信息共享是关键; - 讨论围绕心脏和心脏病的研究和科学进步的机会， 肺功能，对健康和质量影响最大的两个系统， 终身为先天性肌肉疾病社区; - 创建、塑造和完善研究项目和计划，明确患者的意见， 需求与设计与受影响的个人和临床医生的讨论将有助于确保 研究是回应社会的需要。 随着Cure CMD，AFBS和Titin团队与研究人员和行业合作， 对于临床试验，这些社区已经为下一次合作会议做好了准备。

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.