GNE Myopathy patient registries

Register for the International GNE Myopathy Registry here

International GNE Myopathy Registry

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

Japanese GNE Myopathy Registry

The Japanese GNE myopathy registry was set-up in 2012 and is operated by Dr. Madoka Mori from the National Center of Neurology and Psychiatry, Tokyo.

Genetic database

A locus-specific database listing all reported mutations for the GNE gene is provided by Dr den Dunnen at

12 Apr 2017