S.P.32 The HIBM Patient Monitoring Program (HIBM-PMP): Registry and natural history study to advance research and clinical management in Hereditary Inclusion Body Myopathy (HIBM or GNE Myopathy)

Abstract HIBM is an autosomal recessive, non-inflammatory, neuromuscular disorder caused by a defect in the biosynthetic pathway for sialic acid with no approved treatment. Given the rarity of the disease and the potential for novel therapies, there is a need to characterize the clinical presentation and progression of disease to support treatment development. This program proposes the use of a single web-based electronic data capture and management platform to conduct two integrated and connected data collection efforts: a HIBM disease registry and a natural history study. The registry will solicit information on medical/diagnostic history, and clinical symptoms/progression from patients and/or their physicians using an online questionnaire. Patient-reported data would be confirmed with medical professionals, providing an intermediate level of data verification. Registry patients may be recruited by their physicians to participate in the natural history study which will be conducted at specialized centers. The study involves annual visits to assess biochemical markers of sialylation, muscle strength and function and patient-reported outcomes. Data from both studies would be monitored against medical records to create a GCP-compliant dataset. The hybrid design maximizes the ease of registry participation yet promotes the development of rigorous datasets to support the sharing of verified data with regulatory agencies, clinicians, patients and academia. A governance board with a defined charter and representation from public, private and academic sectors will establish and enforce policies and procedures for access to and use of HIBM-PMP data. Physicians will have real-time access to data from their patients and can request additional data from the governance board for use in research, presentations and publications. The PMP for HIBM will be launched in 2012 at multiple sites in the US, Europe and Israel. Expansion of the platform into other diseases is planned in 2013.