A673annual questionnaire that was specifically designed to assess the symptoms and problems of the disease. Results: We review our results of over 10 years of followup, and discuss the survey's contribution to the field. Tracking 408 Pompe patients between 2002 and 2013, the cumulative data reveals the broad range of clinical manifestations that interfere with patients' lives. The survey allowed us to quantify the rate of disease progression and the positive effects of ERT on patients' quality of life, fatigue, and participation in daily life. Furthermore, it showed for the first time that survival is reduced in adult Pompe disease and improved by ERT. ConClusions: Our results show that a patient survey can serve as a valuable and reliable tool for obtaining quantifiable information on the natural course of a rare disease and on the effects of therapy in a large cohort over a very long time. Most importantly, by working with patient reported outcomes, the survey provides the data that is truly relevant to the patient and complementary to clinical datasets.

erate hemophilia (p= 0.01), HIV (p< 0.01), HCV (p= 0.02), and factor usage (p= 0.02) were significantly associated with ABF. Fewer variables had a significant association with ABF for children compared to adults, including prophylaxis (p< 0.01) and factor usage (p= 0.01). ConClusions: Variables associated with ABF include sociodemographics, clinical characteristics and factor usage. The preliminary results reinforce the importance of optimizing treatment for individual differences. Future studies should investigate how variations in bleeding outcomes and treatment are associated with healthcare costs.

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