NCT01784679

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)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 319 (actual)
• Sponsor: Ultragenyx Pharmaceutical Inc · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

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

• Hereditary Inclusion Body Myopathy
• GNE Myopathy
• Nonaka Disease
• Quadriceps Sparing Myopathy (QSM)
• Distal Myopathy With Rimmed Vacuoles (DMRV)

Timeline

• Start date: 2013-04-05
• Primary completion: 2017-11-30
• Completion: 2017-11-30
• First posted: 2013-02-06
• Last updated: 2018-04-27

Locations

5 sites across 5 countries: United States, Bulgaria, Canada, France, United Kingdom