E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
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DOI：
10.3233/jnd-210655
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发表时间：
2021
影响因子：
3.3
通讯作者：
Sacconi S
中科院分区：
文献类型：
--
作者：
Pini J;Siciliano G;Lahaut P;Braun S;Segovia-Kueny S;Kole A;Hérnando I;Selb J;Schirinzi E;Duong T;Hogrel JY;Olmedo JJS;Vissing J;Servais L;Vincent-Genod D;Vuillerot C;Bannwarth S;Eggenspieler D;Vicart S;Diaz-Manera J;eNMD group;Lochmüller H;Sacconi S
根据定义，神经肌肉疾病是罕见的，症状波动;患者往往是最近诊断的，没有足够的信息来了解他们的病情，并积极主动地进行管理。通常，资源或服务不足，导致患者的社会负担。从医学的角度来看，这种疾病的罕见性导致医务人员和护理人员不熟悉，并且在疾病评估，治疗和管理方面缺乏共识。必须针对患者和医生未满足的需求开发创新。改善患者生活质量的几个方面至关重要，更好地了解他们的疾病，简化他们的管理和随访，帮助他们的护理人员，并减少患有罕见衰弱性疾病的社会和经济负担。数据库建设将根据特定国家的数据隐私登记对患者数据和症状进行重新分组，这对于建立神经肌肉疾病治疗的明确共识至关重要。临床医生还需要技术创新来帮助他们识别神经肌肉疾病，根据医学共识找到最佳治疗方法，以及定期跟踪患者状态的工具。诊断还必须通过实施自动化系统来分析大量数据来改进，这是加快诊断和患者随访的重要一步。此外，开发能够可靠地精确测量特定结果的新工具在临床试验中具有重要意义，以评估新开发的化合物的功效。在这方面，建立一个专家社区对于交流和分享想法至关重要。为此，来自9个不同国家的97名临床医生、医疗保健专业人员、研究人员和私营公司代表齐聚一堂，讨论在神经肌肉疾病领域开发和实施创新工具的新视角和挑战。
By definition, neuromuscular diseases are rare and fluctuating in terms of symptoms; patients are often lately diagnosed, do not have enough information to understand their condition and be proactive in their management. Usually, insufficient resources or services are available, leading to patients’ social burden. From a medical perspective, the rarity of such diseases leads to the unfamiliarity of the medical staff and caregiver and an absence of consensus in disease assessment, treatment, and management. Innovations have to be developed in response to patients’ and physicians’ unmet needs. It is vital to improve several aspects of patients’ quality of life with a better comprehension of their disease, simplify their management and follow-up, help their caregiver, and reduce the social and economic burden for living with a rare debilitating disease. Database construction regrouping patients’ data and symptoms according to specific country registration on data privacy will be critical in establishing a clear consensus on neuromuscular disease treatment. Clinicians also need technological innovations to help them recognize neuromuscular diseases, find the best therapeutic approach based on medical consensus, and tools to follow patients’ states regularly. Diagnosis also has to be improved by implementing automated systems to analyze a considerable amount of data, representing a significant step forward to accelerate the diagnosis and the patients’ follow up. Further, the development of new tools able to precisely measure specific outcomes reliably is of the matter of importance in clinical trials to assess the efficacy of a newly developed compound. In this context, creation of an expert community is essential to communicate and share ideas. To this end, 97 clinicians, healthcare professionals, researchers, and representatives of private companies from 9 different countries met to discuss the new perspective and challenges to develop and implement innovative tools in the field of neuromuscular diseases.