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)

NCT ID: NCT01784679

Last Updated: 2018-04-27

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 319 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2013-04-05
• Study Completion Date: 2017-11-30

Brief Summary

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.

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.

Conditions

Hereditary Inclusion Body Myopathy; GNE Myopathy; Nonaka Disease; Quadriceps Sparing Myopathy (QSM); Distal Myopathy With Rimmed Vacuoles (DMRV)

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: PROSPECTIVE

Study Groups

Natural History Prospective Observational Group

No interventions assigned to this group

Online Registry Patient Reported Group

No interventions assigned to this group

Eligibility 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 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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Newcastle University

OTHER

Sponsor Role: collaborator

Ultragenyx Pharmaceutical Inc

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

University of California, Irvine

Irvine, California, United States

Bulgarian Neuromuscular Disease Association

Sofia, , Bulgaria

McMaster University

Hamilton, Ontario, Canada

Association Institut de Myologie

Paris, , France

The Newcastle upon Tyne Hospitals

Newcastle upon Tyne, Tyne and Wear, United Kingdom

Countries

United States; Bulgaria; Canada; France; United Kingdom

Other Identifiers

UX001-CL401

Identifier Type: -

Identifier Source: org_study_id