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 |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/29/2018 |
| Start Date: | April 5, 2013 |
| End Date: | November 30, 2017 |
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.
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.
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.
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.
We found this trial at
2
sites
Irvine, California 92697
949-824-5011
Principal Investigator: Tahseen Mozaffar, MD
Phone: 714-456-8520
University of California, Irvine Since 1965, the University of California, Irvine has combined the strengths...
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Sofia,
Principal Investigator: Ivailo Tournev, M.D., Ph.D., D. Sc
Phone: +359 2 9230670
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