Clinical Trial: 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)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: 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)

Brief 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 Summary:

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.

Sponsor: Ultragenyx Pharmaceutical Inc

Current Primary Outcome: Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. [ Time Frame: 3 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes. [ Time Frame: 3 years ]

Original Secondary Outcome: Same as current

Information By: Ultragenyx Pharmaceutical Inc

Dates:
Date Received: February 4, 2013
Date Started: March 2013
Date Completion: February 2028
Last Updated: October 24, 2016
Last Verified: October 2016