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)

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.

Study Overview

• Status: Completed
• Conditions: Hereditary Inclusion Body Myopathy; GNE Myopathy; Nonaka Disease; Quadriceps Sparing Myopathy (QSM); Distal Myopathy With Rimmed Vacuoles (DMRV)

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.

• Study Type: Observational
• Enrollment (Actual): 319

Contacts and Locations

Study Locations

• Bulgaria
  • Sofia, Bulgaria
    • Bulgarian Neuromuscular Disease Association
• Canada
  • Ontario
    • Hamilton, Ontario, Canada, L8N3Z5
      • McMaster University
• France
  • Paris, France, 75013
    • Association Institut de Myologie
• United Kingdom
  • Tyne And Wear
    • Newcastle Upon Tyne, Tyne And Wear, United Kingdom, NE1 4LP
      • The Newcastle Upon Tyne Hospitals
• United States
  • California
    • Irvine, California, United States, 92697
      • University of California, Irvine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Natural History Prospective Observational Group
Online Registry Patient Reported Group

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function.	3 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes.	3 years

Collaborators and Investigators

• Sponsor: Ultragenyx Pharmaceutical Inc
• Collaborators: Newcastle University

Publications and helpful links

Helpful Links

• Related Info

Study record dates

Study Major Dates

• Study Start (Actual): April 5, 2013
• Primary Completion (Actual): November 30, 2017
• Study Completion (Actual): November 30, 2017

Study Registration Dates

• First Submitted: February 4, 2013
• First Submitted That Met QC Criteria: February 5, 2013
• First Posted (Estimate): February 6, 2013

Study Record Updates

• Last Update Posted (Actual): April 27, 2018
• Last Update Submitted That Met QC Criteria: April 25, 2018
• Last Verified: April 1, 2018

More Information

Terms related to this study

• Keywords: rare disease; Hereditary Inclusion Body Myopathy; GNE Myopathy; Nonaka Disease; Quadriceps Sparing Myopathy; distal myopathy with rimmed vacuoles; ultragenyx
• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Diseases; Distal Myopathies
• Other Study ID Numbers: UX001-CL401

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No