Studies Of Hereditary Neurological Disease: Clinical Trials

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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.