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. (see Contacts and Locations)
Verified September 2013 by Ultragenyx Pharmaceutical Inc
Sponsor:
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier:
NCT01784679
First received: February 4, 2013
Last updated: March 10, 2014
Last verified: September 2013
  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:


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
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: John Ditton jditton@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 Not yet recruiting
Paris, France, 75013
Contact: Dominique Desbuleux    01-42-16-66-49    d.desbuleux@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
  More Information

Additional 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: March 10, 2014
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 August 18, 2014