GNE Myopathy patient registries
The online registry collects data directly from people with GNE myopathy. The data helps clinicians, researchers, patients and families to understand the condition better. It also helps in recruiting patients for clinical trials and research. The registry is ran by a team at the John Walton Muscular Dystrophy Research Centre at Newcastle University, was launched in 2014 and is available in seven different languages (including English, Arabic, Hebrew)
Up until 2019, the registry was supported by Ultragenyx (through substantial financial investment) as well as TREAT-NMD (via in-kind contributions in terms of networking and expert opinion).
The GNE Registry has over 350 participants and has continuously grown steadily over its 5 years of operations. The registry operates on a global scale including users from the United States, Europe and the far East taking the total number of countries represented to 34. 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.