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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)

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2016 by Ultragenyx Pharmaceutical Inc
Sponsor:
Collaborator:
Newcastle University
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier:
NCT01784679
First received: February 4, 2013
Last updated: October 24, 2016
Last verified: October 2016
  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: 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)

Resource links provided by NLM:


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 2020 (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:

  • 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.
  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
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 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01784679

Contacts
Contact: Kim Mooney, MS, CGC KMooney@ultragenyx.com

Locations
United States, California
University of California, Irvine Recruiting
Irvine, California, United States, 92697
Contact: Brian Minton    714-456-8520    bminton@uci.edu   
Principal Investigator: Tahseen Mozaffar, MD         
Bulgaria
Bulgarian Neuromuscular Disease Association Recruiting
Sofia, Bulgaria
Contact: Ivailo Tournev, MD    +359 2 9230670    itournev@emhpf.org   
Principal Investigator: Ivailo Tournev, M.D., Ph.D., D. Sc         
Canada, Ontario
McMaster University Recruiting
Hamilton, Ontario, Canada, L8N3Z5
Contact: Erin Hatcher    905-521-2100 X76929    hatchere@HHSC.CA   
Principal Investigator: Mark Tarnopolsky, MD         
France
Association Institut de Myologie Recruiting
Paris, France, 75013
Contact: Dominique Duchene    01-42-16-66-49    d.duchene@institut-myologie.org   
Principal Investigator: Dr. Anthony Behin         
United Kingdom
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         
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
Newcastle University
  More Information

Additional Information:
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: October 24, 2016
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 December 07, 2016