Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease
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.
Hereditary Inclusion Body Myopathy
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|
- 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 ]
- 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 ]
|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)|
|Natural History Prospective Observational Group|
|Online Registry Patient Reported Group|
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.
|Contact: John Dittonfirstname.lastname@example.org|
|United States, California|
|University of California, Irvine||Recruiting|
|Irvine, California, United States, 92697|
|Contact: Brian Minton 714-456-8520 email@example.com|
|Principal Investigator: Tahseen Mozaffar, MD|
|Bulgarian Neuromuscular Disease Association||Recruiting|
|Contact: Ivailo Tournev, MD +359 2 9230670 firstname.lastname@example.org|
|Principal Investigator: Ivailo Tournev, M.D., Ph.D., D. Sc|
|Hamilton, Ontario, Canada, L8N3Z5|
|Contact: Erin Hatcher 905-521-2100 X76929 hatchere@HHSC.CA|
|Principal Investigator: Mark Tarnopolsky, MD|
|Association Institut de Myologie||Not yet recruiting|
|Paris, France, 75013|
|Contact: Dominique Desbuleux 01-42-16-66-49 email@example.com|
|Principal Investigator: Dr. Anthony Behin|
|The Newcastle upon Tyne Hospitals||Recruiting|
|Newcastle Upon Tyne, Tyne and Wear, United Kingdom, NE1 4LP|
|Contact: Oksana Pogoryelova +44 (0) 191 2418640 Oksana.Pogoryelova@newcastle.ac.uk|
|Principal Investigator: Hanns Lochmuller, MD|