Trial record 2 of 1121 for:
"Muscular Diseases"
Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease
This study is currently recruiting participants.
Verified April 2013 by Ultragenyx Pharmaceutical Inc
Sponsor:
Ultragenyx Pharmaceutical Inc
Collaborator:
McMaster University
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier:
NCT01784679
First received: February 4, 2013
Last updated: April 10, 2013
Last verified: April 2013
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Purpose
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 |
|---|
|
Hereditary Inclusion Body Myopathy GNE Myopathy Nonaka Disease Quadriceps Sparing Myopathy (QSM) Distal Myopathy With Rimmed Vacuoles (DMRV) |
| Study Type: | Observational [Patient Registry] |
| Study Design: | Time Perspective: Prospective |
| Target Follow-Up Duration: | 15 Years |
| Official Title: | Hereditary Inclusion Body Myopathy-Patient Monitoring Program (HIBM-PMP): A Registry and Prospective Observational Natural History Study to Assess HIBM Disease |
Resource links provided by NLM:
Genetics Home Reference related topics:
distal myopathy 2
inclusion body myopathy 2
Laing distal myopathy
MedlinePlus related topics:
Muscle Disorders
U.S. FDA Resources
Further study details as provided by Ultragenyx Pharmaceutical Inc:
Primary Outcome Measures:
- Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. [ Time Frame: 3 years ] [ Designated as safety issue: No ]
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 ] [ Designated as safety issue: No ]
| Estimated Enrollment: | 200 |
| Study Start Date: | March 2013 |
| Estimated Study Completion Date: | February 2028 |
| Estimated Primary Completion Date: | February 2016 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
| Natural History Prospective Observational Group |
| Online Registry Patient Reported Group |
Detailed Description:
The main objective of this program is to better understand HIBM.
The specific HIBM Disease Registry's objectives are to:
- Identify HIBM patients worldwide.
- Promote awareness and facilitate diagnosis of HIBM disease in the neuromuscular field.
- Obtain an assessment of the medical history, clinical presentation and progression of disease in HIBM patients and provide a connection for subjects to the broader HIBM 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.
Eligibility| Ages Eligible for Study: | 18 Years to 65 Years |
| Genders Eligible for Study: | Both |
| 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 at least 18 years of age.
- 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 HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
- Must be willing and able to comply with all study requirements.
Exclusion Criteria:
- For Natural History Component, Any unrelated, comorbid 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
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01784679
Contacts
| Contact: John Ditton | jditton@ultragenyx.com |
Locations
| Canada, Ontario | |
| McMaster University | Recruiting |
| Hamilton, Ontario, Canada, L8N3Z5 | |
| Contact: Erin Hatcher 905-521-2100 X76929 hatchere@HHSC.CA | |
| Principal Investigator: Mark Tarnopolsky, MD | |
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
McMaster University
More Information
No publications provided
| Responsible Party: | Ultragenyx Pharmaceutical Inc |
| ClinicalTrials.gov Identifier: | NCT01784679 History of Changes |
| Other Study ID Numbers: | UX001-CL401 |
| Study First Received: | February 4, 2013 |
| Last Updated: | April 10, 2013 |
| Health Authority: | United States: Food and Drug Administration |
Keywords provided by Ultragenyx Pharmaceutical Inc:
|
Hereditary Inclusion Body Myopathy GNE Myopathy Nonaka Disease Quadriceps Sparing Myopathy |
distal myopathy with rimmed vacuoles ultragenyx rare disease |
Additional relevant MeSH terms:
|
Muscular Diseases Distal Myopathies Musculoskeletal Diseases Neuromuscular Diseases |
Nervous System Diseases Muscular Dystrophies Muscular Disorders, Atrophic Genetic Diseases, Inborn |
ClinicalTrials.gov processed this record on May 21, 2013