International GNE Myopathy Patient Registry (GNE001)

Status: Unknown status
Location: See location...
Intervention Type: Other
Study Type: Observational [Patient Registry]

GNE myopathy, an ultra-rare disease, 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 understand the world wide epidemiology of this ultra-rare condition, better understand a long-term disease course and the progression of disease-specific features, support translational research by evaluating burden illness and support clinical research recruitment. Therefore, the study will longitudinally collect information via an online patient registry platform.

Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: No

• Aged 18 years or older at the time of informed consent

• Clinical and/or genetic diagnosis of GNE myopathy (also known as HIBM, QSM, Inclusion Body Myopathy Type 2, DMRV, or Nonaka disease)

• Willing and able to provided electronic (or written) consent and comply with all study requirements.

Other Locations
United Kingdom
John Walton Muscular Dystrophy Research Centre
Newcastle Upon Tyne
Contact Information
Registry Curator
0191 2418605
Time Frame
Start Date: March 2014
Completion Date: December 2021
Target number of participants: 430
Participants with GNE
Related Therapeutic Areas
Leads: Newcastle University

This content was sourced from

Similar Clinical Trials