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)

NCT01784679 | Completed

• 1 other identifier: UX001-CL401
• Study Type: observational
• Target: 319
• Locations: 5 countries
• Sites: 5

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.

Conditions

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

Keywords

Hereditary Inclusion Body Myopathy; GNE Myopathy; Nonaka Disease; Quadriceps Sparing Myopathy; distal myopathy with rimmed vacuoles; ultragenyx; rare disease

Outcome Measures

Primary Outcomes (1)

• Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function.

  3 years

Secondary Outcomes (1)

• 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

Study Arms (2)

Natural History Prospective Observational Group

Online Registry Patient Reported Group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Must be willing and able to provide electronic consent to release access to medical information to the study sponsor or its agents
• 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.

You may not qualify if:

• For Natural History Component, concurrent disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.

Sponsors & Collaborators

• Ultragenyx Pharmaceutical Inc: lead
• Newcastle University: collaborator

Study Sites (5)

University of California, Irvine

Irvine, California, 92697, United States

Location

Bulgarian Neuromuscular Disease Association

Sofia, Bulgaria

Location

McMaster University

Hamilton, Ontario, L8N3Z5, Canada

Location

Association Institut de Myologie

Paris, 75013, France

Location

The Newcastle upon Tyne Hospitals

Newcastle upon Tyne, Tyne and Wear, NE1 4LP, United Kingdom

Location

MeSH Terms

Conditions

Distal myopathy, Nonaka type; Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Target Duration: 15 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 4, 2013
• First Posted: February 6, 2013
• Study Start: April 5, 2013
• Primary Completion: November 30, 2017
• Study Completion: November 30, 2017
• Last Updated: April 27, 2018

Record last verified: 2018-04

Locations

GB (1); US (1); CA (1); FR (1); BU (1)