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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)

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ClinicalTrials.gov Identifier: NCT01784679
Recruitment Status : Completed
First Posted : February 6, 2013
Last Update Posted : April 27, 2018
Sponsor:
Collaborator:
Newcastle University
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

February 4, 2013
February 6, 2013
April 27, 2018
April 5, 2013
November 30, 2017   (Final data collection date for primary outcome measure)
Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. [ Time Frame: 3 years ]
Same as current
Complete list of historical versions of study NCT01784679 on ClinicalTrials.gov Archive Site
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 ]
Same as current
Not Provided
Not Provided
 
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)
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)
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.
Observational [Patient Registry]
Observational Model: Other
Time Perspective: Prospective
15 Years
Not Provided
Probability Sample
Must have a diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
  • Hereditary Inclusion Body Myopathy
  • GNE Myopathy
  • Nonaka Disease
  • Quadriceps Sparing Myopathy (QSM)
  • Distal Myopathy With Rimmed Vacuoles (DMRV)
Not Provided
  • Natural History Prospective Observational Group
  • Online Registry Patient Reported Group
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
319
200
November 30, 2017
November 30, 2017   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Must be willing and able to provide electronic consent to release access to medical information to the study sponsor or its agents
  • Must have a diagnosis of GNEM, HIBM, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease. (Genotyping will not be required for the GNEM Disease Registry and will not be conducted in this protocol. However, when available, genotypes of disease registry subjects should be provided and all subjects will be encouraged to be genotyped during the course of the disease registry through independent programs.)
  • Must be willing and able to comply with all study procedures.
  • Must meet all of the inclusion criteria for the GNEM Disease Registry portion of the study.
  • Must be willing to have their collected information used as part of the GNEM Disease Registry.
  • Must provide a genotype confirming GNE disease. Genotyping will not be conducted as part of this protocol, so GNE disease genotype data must be provided by the subject/physician from other sources.
  • In the opinion of the investigator, the subject will be complaint with study visit schedule and study procedures.

Exclusion Criteria:

  • For Natural History Component, concurrent disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.
  • For Online Registry Component, there are no exclusion criteria.
Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact information is only displayed when the study is recruiting subjects
Bulgaria,   Canada,   France,   United Kingdom,   United States
 
 
NCT01784679
UX001-CL401
No
Not Provided
Not Provided
Ultragenyx Pharmaceutical Inc
Ultragenyx Pharmaceutical Inc
Newcastle University
Not Provided
Ultragenyx Pharmaceutical Inc
April 2018