基因决定的阿尔茨海默病研究进展：2024年唐氏综合征与常染色体显性阿尔茨海默病会议

Genetically determined Alzheimer's disease research advances: The Down Syndrome & Autosomal Dominant Alzheimer's Disease 2024 Conference.

作者信息

Falgàs Neus, Maure-Blesa Lucia, Ances Beau, Flores-Aguilar Lisi, Hartley Sigan, Hassenstab Jason, Iulita M Florencia, Janicki Matthew, Koenig Katherine, Lao Patrick, Levin Johannes, McDade Eric, Meijer Laurent, Rafii Michael S, Snyder Heather M, Sánchez-Valle Raquel, Fortea Juan, Arriola Infante Jose, Balasa Mirea, Barroeta Isabel, Barthelemy R Nicolas, Bejanin Alexandre, Benejam Bessy, Bosch Beatriz, Bradshaw Angela, Carmona-Iragui Maria, Cohen Ann, Comas Albertí Aina, Csincsik Lajos, Cuello A Claudio, Del Hoyo Soriano Laura, Dijkstra Janna, Edwards Natalie, Giménez Sandra, Gonzalez-Ortiz Fernando, Gordon Brian, Gutiérrez Fernández Sara, Handen Benjamin, Jacob Charlotte, Johnson Erik, Johansson Charlotte, Lladó Albert, Lleó Alberto, Morabito Samuel, Morcillo-Nieto Alejandra O, Montoliu-Gaya Laia, Okafor Michael, Pérez-Millan Agnes, Potier Marie Claude, Ringman John, Rodríguez-Baz Íñigo, Rubenstein Eric, Ryan Natalie S, Strydom André, Vaqué-Alcázar Lidia, Vermunt Lisa, Videla Toro Laura, Zaman Shahid

机构信息

Alzheimer's Disease and Other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic de Barcelona, Fundació de Recerca Clínic Barcelona-Institut d'Investigació Biomèdica August Pi i Sunyer, University of Barcelona, Barcelona, Spain.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Sant Antoni Maria Claret, Departamento de Medicina, Universitat Autónoma de Barcelona, Barcelona, Spain.

出版信息

Alzheimers Dement. 2025 Jul;21(7):e70309. doi: 10.1002/alz.70309.

DOI:10.1002/alz.70309

PMID:40604347

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12221810/

Abstract

INTRODUCTION

The Down syndrome-associated Alzheimer's disease (DSAD) autosomal dominant Alzheimer's disease (ADAD) 2024 Conference in Barcelona, convened under an Alzheimer's Association International Society to Advance Alzheimer's Research and Treatment (ISTAART) grant through the Down syndrome and Alzheimer's disease (AD) Professional Interest Area (PIA), brought together global researchers to foster collaboration and knowledge exchange between the fields of DSAD and ADAD.

METHODS

This article provides a synthesis review of the conference proceedings, summarizing key discussions on biomarkers, natural history models, clinical trials, and ethical considerations in anti-amyloid therapies.

RESULTS

A total of 211 attendees from 16 countries joined the meeting. Global researchers presented on disease mechanisms, therapeutic developments, and patient care strategies. Discussions focused on challenges and opportunities unique to DSAD and ADAD. Experts emphasized the urgent need for tailored clinical trials for ADAD and DSAD and debated the safety and efficacy of anti-amyloid treatments. Ethical considerations highlighted equitable access to therapies and the crucial role of patient and caregiver involvement.

DISCUSSION

The conference highlighted the importance of inclusive research and collaboration across the genetic forms of AD.

HIGHLIGHTS

Biomarker research and natural history models developed in Down syndrome-associated Alzheimer's disease (DSAD) and autosomal dominant Alzheimer's disease (ADAD) enable the prediction of disease progression not only for DSAD and ADAD, but also for sporadic Alzheimer's disease (AD). -Collaboration and knowledge exchange among researchers across these genetic forms of AD will accelerate our understanding of the pathophysiology and advance preventive trials in DSAD and ADAD. -Tailored clinical trials for DSAD are urgently needed to address specific safety and efficacy concerns. -Inclusive research practices are crucial for advancing treatments and understanding of DSAD and ADAD.

摘要

引言

2024年巴塞罗那唐氏综合征相关阿尔茨海默病（DSAD）常染色体显性遗传阿尔茨海默病（ADAD）会议，是在阿尔茨海默病协会国际促进阿尔茨海默病研究与治疗协会（ISTAART）的资助下，通过唐氏综合征与阿尔茨海默病（AD）专业兴趣领域（PIA）召开的，汇聚了全球研究人员，以促进DSAD和ADAD领域之间的合作与知识交流。

方法

本文对会议议程进行了综合回顾，总结了关于生物标志物、自然病史模型、临床试验以及抗淀粉样蛋白疗法中的伦理考量等关键讨论。

结果

来自16个国家的211名与会者参加了此次会议。全球研究人员介绍了疾病机制、治疗进展和患者护理策略。讨论聚焦于DSAD和ADAD特有的挑战与机遇。专家们强调迫切需要针对ADAD和DSAD开展量身定制的临床试验，并就抗淀粉样蛋白治疗的安全性和有效性展开了辩论。伦理考量突出了公平获得治疗的重要性以及患者和护理人员参与的关键作用。

讨论

会议强调了跨AD遗传形式进行包容性研究与合作的重要性。

要点

唐氏综合征相关阿尔茨海默病（DSAD）和常染色体显性遗传阿尔茨海默病（ADAD）中开展的生物标志物研究和自然病史模型，不仅能够预测DSAD和ADAD的疾病进展，还能预测散发性阿尔茨海默病（AD）的疾病进展。——这些AD遗传形式的研究人员之间的合作与知识交流，将加速我们对病理生理学的理解，并推进DSAD和ADAD的预防性试验。——迫切需要针对DSAD开展量身定制的临床试验，以解决特定的安全性和有效性问题。——包容性研究实践对于推进DSAD和ADAD的治疗及理解至关重要。