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)
Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Ultragenyx Pharmaceutical Inc
With
Newcastle University
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.
Age
Any age
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible 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 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 be 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.
Clareo Health | 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)
