Studies Of Hereditary Neurological Disease: Clinical Trials

这项研究计划的目的是开发安全有效的治疗遗传性神经系统疾病的方法。近两年的一项具体研究成果是我们对脊髓球性肌萎缩症（SBMA）对生活质量（QoL）的影响的研究。我们的研究从患者的角度描述了这些症状以及这些症状对生活质量的影响。我们对经基因证实患有SBMA的成年男性进行了开放式访谈。使用定性框架技术，我们对访谈进行编码和分析，以确定症状和由此产生的主题。从这些访谈中，摘取了729条引文。我们确定了200个sbma特异性症状和20个症状主题。所有的受访者都提到了弱点。还经常提到心理健康领域的症状以及情感问题和心理影响的具体主题。许多症状影响SBMA患者的生活质量。我们发现了以前未被认识到的症状，这些症状对于加强SBMA患者的临床护理和开发评估未来临床试验疗效的工具非常重要。我们现在正在利用这个和其他临床信息来设计和实施一项介入性试验。

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.