PDF(Pubmed)
Abstract：
BACKGROUND: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life.
RESULTS: The Externally Led Patient-Focused Drug Development (EL-PFDD) meeting was an opportunity for families affected by PMS to share with the Food and Drug Administration (FDA) how symptoms impact their lives and how treatments could be most meaningful. The Voice of the Patient report serves as a summary of this meeting to influence upcoming drug development and clinical trials. The purpose of this report is to provide a clinical perspective on the results of the EL-PFDD meeting to amplify the voice of these caregivers to the scientific community.
CONCLUSIONS: Caregivers prioritize an improved quality of life for their loved ones characterized by improved cognitive function, improved communication, increased independence, and reduced risk of regression. With these caregiver priorities in mind, this report provides the FDA and the scientific community with a clear understanding of which aspects of PMS should influence the development of future therapeutics.
RESULTS: The Externally Led Patient-Focused Drug Development (EL-PFDD) meeting was an opportunity for families affected by PMS to share with the Food and Drug Administration (FDA) how symptoms impact their lives and how treatments could be most meaningful. The Voice of the Patient report serves as a summary of this meeting to influence upcoming drug development and clinical trials. The purpose of this report is to provide a clinical perspective on the results of the EL-PFDD meeting to amplify the voice of these caregivers to the scientific community.
CONCLUSIONS: Caregivers prioritize an improved quality of life for their loved ones characterized by improved cognitive function, improved communication, increased independence, and reduced risk of regression. With these caregiver priorities in mind, this report provides the FDA and the scientific community with a clear understanding of which aspects of PMS should influence the development of future therapeutics.
摘要：
背景：Phelan-McDermid综合征（PMS）是一种由SHANK3单倍体功能不全引起的神经发育障碍，其临床表现可能是破坏性的，并严重影响生活质量。
结果：外部主导的以患者为中心的药物开发（EL-PFDD）会议为受PMS影响的家庭提供了一个机会，与食品和药物管理局（FDA）分享症状如何影响他们的生活以及治疗如何最有意义。患者的声音报告作为本次会议的摘要，以影响即将到来的药物开发和临床试验。本报告的目的是对EL-PFDD会议的结果提供临床观点，以扩大这些护理人员对科学界的声音。
结论：照顾者优先考虑以改善认知功能为特征的亲人的生活质量。改善沟通,独立性增强,并降低回归风险。考虑到这些照顾者的优先事项，本报告为FDA和科学界提供了一个清晰的认识,即PMS的哪些方面应该影响未来治疗方法的发展.
结果：外部主导的以患者为中心的药物开发（EL-PFDD）会议为受PMS影响的家庭提供了一个机会，与食品和药物管理局（FDA）分享症状如何影响他们的生活以及治疗如何最有意义。患者的声音报告作为本次会议的摘要，以影响即将到来的药物开发和临床试验。本报告的目的是对EL-PFDD会议的结果提供临床观点，以扩大这些护理人员对科学界的声音。
结论：照顾者优先考虑以改善认知功能为特征的亲人的生活质量。改善沟通,独立性增强,并降低回归风险。考虑到这些照顾者的优先事项，本报告为FDA和科学界提供了一个清晰的认识,即PMS的哪些方面应该影响未来治疗方法的发展.
