Abstract：
BACKGROUND: Since 2014, several clinical studies focusing on centronuclear myopathies have been conducted, including a prospective natural history study, a gene transfer clinical trial and a clinical trial using an antisense oligonucleotide. Dedicated patient organizations have played an important role in this process. The experience of members of these organizations, either as a study participant, parent or as a patient organization member communicating with the sponsors are potentially very informative for future trial design.
METHODS: We investigated the burden of and the lessons learned from the first natural history studies and clinical trials from a patient perspective using a qualitative approach. We arranged 4 focus groups with a total of 37 participants from 3 large international patient organizations: ZNM-ZusammenStark!, the Myotubular Trust, and the MTM-CNM Family Connection. 4 themes, based on a systematic literature search were discussed: Expectations and preparation, Clinical study participation, Communication and Recommendations for future clinical trials. The focus group recordings were transcribed, anonymized, and uploaded to Atlas-ti version 8.1 software. The data were analyzed using a thematic content analysis.
RESULTS: Overall, participants were realistic in their expectations, hoping for small improvements of function and quality of life. The realization that trial participation does not equate to a treatment was challenging. Participating in a clinical study had a huge impact on many aspects of daily life, both for patients and their immediate families. First-hand insights into the burden of the design and its possible effect on performance were provided, resulting in numerous compelling recommendations for future clinical studies. Furthermore, participants stressed the importance of clear communication, which was considered to be especially vital in cases of severe adverse events. Finally, while patients were understanding of the importance of adhering to the regulations of good clinical practice, they indicated that they would strongly appreciate a greater understanding and/or acknowledgment of the patient perspective and a reflection of this perspective in future clinical trial design.
CONCLUSIONS: The acknowledgment and inclusion of patients\' perspectives and efficient and effective communication is expected to improve patient recruitment and retention in future clinical studies, as well as more accurate assessment of the patient performance related to suitable planning of the study visits.
METHODS: We investigated the burden of and the lessons learned from the first natural history studies and clinical trials from a patient perspective using a qualitative approach. We arranged 4 focus groups with a total of 37 participants from 3 large international patient organizations: ZNM-ZusammenStark!, the Myotubular Trust, and the MTM-CNM Family Connection. 4 themes, based on a systematic literature search were discussed: Expectations and preparation, Clinical study participation, Communication and Recommendations for future clinical trials. The focus group recordings were transcribed, anonymized, and uploaded to Atlas-ti version 8.1 software. The data were analyzed using a thematic content analysis.
RESULTS: Overall, participants were realistic in their expectations, hoping for small improvements of function and quality of life. The realization that trial participation does not equate to a treatment was challenging. Participating in a clinical study had a huge impact on many aspects of daily life, both for patients and their immediate families. First-hand insights into the burden of the design and its possible effect on performance were provided, resulting in numerous compelling recommendations for future clinical studies. Furthermore, participants stressed the importance of clear communication, which was considered to be especially vital in cases of severe adverse events. Finally, while patients were understanding of the importance of adhering to the regulations of good clinical practice, they indicated that they would strongly appreciate a greater understanding and/or acknowledgment of the patient perspective and a reflection of this perspective in future clinical trial design.
CONCLUSIONS: The acknowledgment and inclusion of patients\' perspectives and efficient and effective communication is expected to improve patient recruitment and retention in future clinical studies, as well as more accurate assessment of the patient performance related to suitable planning of the study visits.
摘要：
背景：自2014年以来，已经进行了几项针对中央核肌病的临床研究，包括一项前瞻性的自然史研究，基因转移临床试验和使用反义寡核苷酸的临床试验。专门的患者组织在这一过程中发挥了重要作用。这些组织成员的经验，无论是作为研究参与者，父母或作为患者组织成员与申办者沟通可能对未来的试验设计非常有益.
方法：我们使用定性方法从患者的角度调查了第一次自然史研究和临床试验的负担和经验教训。我们安排了4个焦点小组，共有来自3个大型国际患者组织的37名参与者：ZNM-ZusammenStark！，肌管信托,和MTM-CNM系列连接。4主题,在系统文献检索的基础上，进行了讨论：期望和准备，参与临床研究，未来临床试验的沟通和建议。焦点小组的录音被转录，匿名,并上传到Atlas-ti8.1版软件。使用主题内容分析对数据进行了分析。
结果：总体而言，参与者的期望是现实的，希望功能和生活质量的微小改善。认识到试验参与并不等同于治疗是具有挑战性的。参与临床研究对日常生活的许多方面产生了巨大的影响，患者及其直系亲属。提供了对设计负担及其对性能的可能影响的第一手见解，为未来的临床研究提供了许多令人信服的建议。此外，与会者强调了明确沟通的重要性，这被认为在严重不良事件的情况下尤其重要。最后,当患者了解遵守良好临床实践规定的重要性时，他们表示,他们将非常感谢对患者观点的更多理解和/或认可,以及在未来的临床试验设计中对这一观点的反映.
结论：患者观点的认可和纳入以及有效和有效的沟通有望在未来的临床研究中改善患者的招募和保留。以及更准确地评估与适当的研究访问计划相关的患者表现。
方法：我们使用定性方法从患者的角度调查了第一次自然史研究和临床试验的负担和经验教训。我们安排了4个焦点小组，共有来自3个大型国际患者组织的37名参与者：ZNM-ZusammenStark！，肌管信托,和MTM-CNM系列连接。4主题,在系统文献检索的基础上，进行了讨论：期望和准备，参与临床研究，未来临床试验的沟通和建议。焦点小组的录音被转录，匿名,并上传到Atlas-ti8.1版软件。使用主题内容分析对数据进行了分析。
结果：总体而言，参与者的期望是现实的，希望功能和生活质量的微小改善。认识到试验参与并不等同于治疗是具有挑战性的。参与临床研究对日常生活的许多方面产生了巨大的影响，患者及其直系亲属。提供了对设计负担及其对性能的可能影响的第一手见解，为未来的临床研究提供了许多令人信服的建议。此外，与会者强调了明确沟通的重要性，这被认为在严重不良事件的情况下尤其重要。最后,当患者了解遵守良好临床实践规定的重要性时，他们表示,他们将非常感谢对患者观点的更多理解和/或认可,以及在未来的临床试验设计中对这一观点的反映.
结论：患者观点的认可和纳入以及有效和有效的沟通有望在未来的临床研究中改善患者的招募和保留。以及更准确地评估与适当的研究访问计划相关的患者表现。
