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)

Ultragenyx

Status: Completed

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

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT01784679

UX001-CL401

Details and patient eligibility

About

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.

Full 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.

Enrollment: 319 patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

319 participants in 2 patient groups

Natural History Prospective Observational Group

Online Registry Patient Reported Group