Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency

CO RR EC TE D P RO OF in February, 2013. Responses were recorded and qualitative analysis (textual analysis) was performed to identify emerging themes. Results: 43 questionnaires were analyzed in April, 2013. Pain, fatigue, burden of the disease, burden of the genetics, quality of life and chronicity were the main representations identified. The management of every day symptoms, such as pain and fatigue was clearly a dramatic expectation. Physicians' concerns were the outcome of the disease and the respective roles of the different treatments. Patients and physicians agreed on the difficulties associated with implementing lifestyle changes. Five main themes finally emerged: understanding FD; understanding the genetic transmission; management of treatments; management of pain; route/quality of life. Conclusion: The differences in perception and experience between physicians andpatients indicate the need to improve educationalmaterial in FD. These results helped us to identify appropriate educational objectives and methods, and develop a structured national educational program (Filigrane).