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)
Completed
Conditions studied: Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease, Quadriceps Sparing Myopathy (QSM), Distal Myopathy With Rimmed Vacuoles (DMRV)
In brief
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.
Key facts
- Study ID
- NCT01784679
- Run by
- Ultragenyx Pharmaceutical Inc
- People needed
- 319
- Starts
- 2013-04-05
- Expected to finish
- 2017-11-30
- Last updated by the study team
- 2018-04-27
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
You may not qualify if…
- 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.
Where it is running
- University of California, Irvine — Irvine, California, United States
- Bulgarian Neuromuscular Disease Association — Sofia, Bulgaria
- McMaster University — Hamilton, Ontario, Canada
- Association Institut de Myologie — Paris, France
- The Newcastle upon Tyne Hospitals — Newcastle upon Tyne, Tyne and Wear, United Kingdom
Full record on ClinicalTrials.gov
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