GNE Myopathy patient registries
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.
A locus-specific database listing all reported mutations for the GNE gene is provided by Dr den Dunnen at www.dmd.nl.