Studies Of Hereditary Neurological Disease: Clinical Trials

这项研究计划的目的是开发安全有效的遗传性神经疾病治疗方法。过去两年的一项具体研究成果是我们研究了脊髓性球肌萎缩症(SBMA)对生活质量(QOL)的影响。我们的研究从患者的角度描述了症状以及这些症状对生活质量的影响。我们对患有基因确认的SBMA的成年男性进行了开放式访谈。使用定性框架技术，我们对访谈进行了编码和分析，以确定症状和由此产生的主题。从这些采访中，我们提取了729条语录。我们确定了200个SBMA特定症状和20个症状主题。所有受访者都提到了弱点。精神健康领域内的症状以及情感问题和心理影响的具体主题也经常被提及。许多症状影响SBMA患者的生活质量。我们确定了以前未被认识到的症状，这些症状在加强对SBMA患者的临床护理以及开发在未来临床试验中评估疗效的工具方面具有重要意义。我们现在正在利用这一信息和其他临床信息来设计和实施一项干预试验。

The purpose of this research program is to develop safe and effective treatments for hereditary neurological disorders. A specific research accomplishment in the past 2 years is our study of the effects of spinal bulbar muscular atrophy (SBMA) on quality of life (QoL). Our study described symptoms from the patient's perspective and the impact these symptoms have on QoL. We conducted open-ended interviews with adult men with genetically confirmed SBMA. Using a qualitative framework technique, we coded and analyzed interviews to identify symptoms and resulting themes. From these interviews, 729 quotations were extracted. We identified 200 SBMA-specific symptoms and 20 symptomatic themes. Weakness was mentioned by all interviewees. Symptoms within the domain of mental health and the specific themes of emotional issues and psychological impact were also frequently mentioned. Numerous symptoms affect QoL for patients with SBMA. We identified previously unrecognized symptoms that are important to address in enhancing clinical care for patients with SBMA and in developing tools to evaluate efficacy in future clinical trials. We are now using this and other clinical information to design and implement an interventional trial.