International GNE Myopathy Registry

Historically several other names have been used to describe GNE myopathy such as HIBM- Hereditary Inclusion Body Myopathy, DMRV- Distal myopathy with rimmed vacuoles, QSM- Quadriceps sparing myopathy, and Nonaka disease. GNE myopathy is a rare muscle weakening disorder with mutations in the GNE gene. The disease leads to weakness and wasting of muscles in legs and arms.

International GNE Myopathy RegistryGNE Myopathy - Disease Monitoring Program

The International GNE registry is a part of GNE Myopathy Disease Monitoring Program (GNEM-DMP) which is a joint initiative by TREAT-NMD and Ultragenyx Pharmaceutical Inc. The GNE registry is an international patient self-reported registry. We welcome all GNE patients over 18 years old worldwide. Patients can participate in the registry regardless of whether they are involved in other clinical studies and trials or not. In the registry we ask patients about history of their GNE myopathy presentation and progression, quality of life, mobility and genetic test.

Sign up to the International registry

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Register for the International GNE Myopathy Registry here Oksana Pogoryelova
Please see below documents with further information about the registry: Registry curator
Oksana Pogoryelova

The Registry Fact Sheet
Patient Information Sheet
Consent Form - English
GNEM-DMP steering committee


GNE Myopathy patient information and consent forms
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Chinese 中文
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French Français
Italian Italiano
Spanish Español

Every effort has been made to ensure the accuracy of the translated documents above however this cannot be guaranteed. Please contact us at if you find any errors.

Up to date information about the registry and natural history study can be found
on the website

12 Apr 2017