A Quality of Life Measurement for Spinal and Bulbar Muscular Atrophy (P3.126)

Objective: To assess quality of life (QoL) in patients with spinal and bulbar muscular atrophy (SBMA) and to develop a SBMA patient reported QoL measurement. Background: SBMA is a slowly progressive neuromuscular disease resulting from a trinucleotide expansion of the androgen receptor gene that results in weakness and atrophy of the limb and bulbar muscles. To date there is no specific QoL measurement for patients with SBMA, and our experience in previous clinical trials has identified a need for such a measure. Design/Methods: Through 21 open ended patient interviews focused on subjective aspects of the disease manifestations, diagnostic process, interpersonal relationships, behavioral changes, and discrimination, we extracted 729 direct quotes. The quotes were classified into 197 specific symptoms. From these symptoms, we extracted themes and domains that the patients described as important to their QoL. We analyzed the frequency of symptoms mentioned to estimate their relative importance. The symptoms were grouped into physical, mental, social, and SBMA-specific categories. Results: Identified symptoms included the patient’s challenges in adapting to physical limitations, difficulty walking, and erectile dysfunction. Other symptoms included the impact of the disease on the patient’s social relationships and sexual life. In the initial diagnosis, many of our patients did not have genetic counseling before genetic testing or when receiving results. Additionally, patients were often misdiagnosed with ALS. Patients have found the majority of information on SBMA through their own research. Conclusions: This study showed that SBMA patients and family members need more education about the disease, in order to help the patients in their initial coping with the diagnosis and to determine what aspects of the patient’s disease burden should be addressed. This study helped to identify topics that are of greatest concern to patients with SBMA, and provides the framework needed for developing a disease-specific QoL measurement for use in future clinical trials. Disclosure: Dr. Guber has nothing to disclose. Dr. Kokkinis has nothing to disclose. Dr. Schindler has nothing to disclose. Dr. Bendixen has nothing to disclose. Dr. Heatwole has nothing to disclose. Dr. Fischbeck has nothing to disclose. Dr. Grunseich has nothing to disclose.