Trial record 6 of 1372 for:    Myopathy

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 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
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 April 23, 2014