GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)

Overview

HIBM is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer. There is a need to better understand the disease-specific features of HIBM to heighten disease awareness; facilitate early diagnosis; identify patients; expand knowledge of the clinical presentation, progression and variation of the disease; identify and validate biomarkers and other efficacy measures; inform on the design and interpretation of clinical studies of investigational products; and eventually to optimize patient management.

The main objective of this program is to better understand HIBM. The specific HIBM Disease Registry's objectives are to: * Understand the geographic distribution and regional incidence/prevalence of GNEM. * Obtain an assessment of the medical history, clinical presentation and progression of disease in GNEM patients and provide a connection for subjects to the broader GNEM community and associated programs. * Provide customized information to subjects and their physicians that desire information on their disease status and progression. The specific HIBM Natural History Study's objectives are to: * Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. * Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes. * Identify biomarkers and efficacy measures for use as endpoints in future clinical studies.

Conditions