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|
Recruitment Status : Recruiting
First Posted : February 6, 2013
Last Update Posted : November 21, 2017
|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]|
|Estimated Enrollment :||200 participants|
|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)|
|Study Start Date :||March 2013|
|Estimated Primary Completion Date :||February 2020|
|Estimated Study Completion Date :||February 2028|
|Natural History Prospective Observational Group|
|Online Registry Patient Reported Group|
- Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. [ Time Frame: 3 years ]
- 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 ]
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01784679
|Contact: Kim Mooney, MS, CGC||KMooney@ultragenyx.com|
|United States, California|
|University of California, Irvine||Recruiting|
|Irvine, California, United States, 92697|
|Contact: Brian Minton 714-456-8520 firstname.lastname@example.org|
|Principal Investigator: Tahseen Mozaffar, MD|
|Bulgarian Neuromuscular Disease Association||Recruiting|
|Contact: Ivailo Tournev, MD +359 2 9230670 email@example.com|
|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||Recruiting|
|Paris, France, 75013|
|Contact: Dominique Duchene 01-42-16-66-49 firstname.lastname@example.org|
|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|