Darriba Álvaro, Munnich Arnold, Cardoso-Leite Pedro, Funalot Benoît, Waszak Florian
Université Paris Cité, CNRS, UMR 8002 INCC, Paris, France.
Institut Imagine, UMR 1163, Hôpital Necker and Université Paris Cité, Paris, France.
Front Neurol. 2025 May 22;16:1558493. doi: 10.3389/fneur.2025.1558493. eCollection 2025.
Friedreich ataxia (FRDA) is the most common type of inherited ataxia. It is a neurodegenerative disorder characterized by progressive gait and limb ataxia, dysarthria, areflexia, and reduced proprioception and vibration sensation. Although a number of clinical trials have been conducted, there is currently no cure for this disease. In this article we review those clinical trials with a focus on the instruments used as endpoints to assess clinical progression, and discuss the potential benefits of integrating additional measures, including assessments from overlooked domains. We also review tools used to evaluate cognitive functions in individuals with FRDA, particularly those employing quantitative, objective, and time-based measures. We argue for the inclusion of cognitive and speech-related assessments in clinical trials, and examine the potential of developments in cognitive neuroscience and technology to address current measurement challenges and support more accurate and comprehensive evaluation of treatment effects. These innovations have the potential to complement existing approaches, enhance trial design, and advance clinical care.
弗里德赖希共济失调(FRDA)是最常见的遗传性共济失调类型。它是一种神经退行性疾病,其特征为进行性步态和肢体共济失调、构音障碍、反射消失以及本体感觉和振动觉减退。尽管已经开展了多项临床试验,但目前尚无治愈该疾病的方法。在本文中,我们回顾了那些临床试验,重点关注用作评估临床进展终点的工具,并讨论纳入其他测量方法(包括来自被忽视领域的评估)的潜在益处。我们还回顾了用于评估FRDA患者认知功能的工具,特别是那些采用定量、客观和基于时间的测量方法的工具。我们主张在临床试验中纳入认知和言语相关评估,并探讨认知神经科学和技术发展在应对当前测量挑战以及支持更准确、全面评估治疗效果方面的潜力。这些创新有可能补充现有方法、改进试验设计并推动临床护理发展。