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International GNE Myopathy Patient Registry

CompletedN/A

Sponsor: Newcastle University

Conditions: GNE Myopathy, Hereditary Inclusion Body Myopathy

Interventions: Patient Registry

Countries: United Kingdom

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.

Eligibility overview

Sex: ALL

Age: 18 Years to —

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria

Inclusion Criteria:

* 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.

Exclusion Criteria:

* Under 18 years of age

Locations (1)

Newcastle upon Tyne, United Kingdom