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 |
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Recruitment Status :
Completed
First Posted : February 6, 2013
Last Update Posted : April 27, 2018
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Sponsor:
Ultragenyx Pharmaceutical Inc
Collaborator:
Newcastle University
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc
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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.
| Condition or disease |
|---|
| Hereditary Inclusion Body Myopathy GNE Myopathy Nonaka Disease Quadriceps Sparing Myopathy (QSM) Distal Myopathy With Rimmed Vacuoles (DMRV) |
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.
| Study Type : | Observational [Patient Registry] |
| Actual Enrollment : | 319 participants |
| Observational Model: | Other |
| Time Perspective: | Prospective |
| Target Follow-Up Duration: | 15 Years |
| 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) |
| Actual Study Start Date : | April 5, 2013 |
| Actual Primary Completion Date : | November 30, 2017 |
| Actual Study Completion Date : | November 30, 2017 |
Resource links provided by the National Library of Medicine
MedlinePlus Genetics related topics:
CAV3-related distal myopathy
Laing distal myopathy
Inclusion body myopathy 2
Distal myopathy 2
MedlinePlus related topics:
Muscle Disorders
| Group/Cohort |
|---|
| Natural History Prospective Observational Group |
| Online Registry Patient Reported Group |
Primary Outcome Measures :
- Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. [ Time Frame: 3 years ]
Secondary Outcome Measures :
- 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 ]
Information from the National Library of Medicine
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| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Probability Sample |
Study Population
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.
Criteria
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.
Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01784679
Locations
| United States, California | |
| University of California, Irvine | |
| Irvine, California, United States, 92697 | |
| Bulgaria | |
| Bulgarian Neuromuscular Disease Association | |
| Sofia, Bulgaria | |
| Canada, Ontario | |
| McMaster University | |
| Hamilton, Ontario, Canada, L8N3Z5 | |
| France | |
| Association Institut de Myologie | |
| Paris, France, 75013 | |
| United Kingdom | |
| The Newcastle upon Tyne Hospitals | |
| Newcastle Upon Tyne, Tyne And Wear, United Kingdom, NE1 4LP | |
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
Newcastle University
Additional Information:
| Responsible Party: | Ultragenyx Pharmaceutical Inc |
| ClinicalTrials.gov Identifier: | NCT01784679 |
| Other Study ID Numbers: |
UX001-CL401 |
| First Posted: | February 6, 2013 Key Record Dates |
| Last Update Posted: | April 27, 2018 |
| Last Verified: | April 2018 |
Keywords provided by Ultragenyx Pharmaceutical Inc:
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Hereditary Inclusion Body Myopathy GNE Myopathy Nonaka Disease Quadriceps Sparing Myopathy |
distal myopathy with rimmed vacuoles ultragenyx rare disease |
Additional relevant MeSH terms:
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Muscular Diseases Distal Myopathies Musculoskeletal Diseases Neuromuscular Diseases |
Nervous System Diseases Muscular Dystrophies Muscular Disorders, Atrophic Genetic Diseases, Inborn |