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 Registry
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 eight different languages (including English, Arabic, Hebrew, Chinese, Farsi, French, Italian and Spanish)
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.
Sign up to the International registry
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gnem@newcastle.ac.uk
Please see below documents with further information about the registry:
The Registry Fact Sheet
Patient Information Sheet
Consent Form – English
| GNE Myopathy patient information and consent forms | |
| Arabic | العربية |
| Chinese | 中文 |
| English |
English |
| Farsi | فارسی |
| French | Français |
| Hebrew |
עִבְרִית |
| 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 info@treat-nmd.com if you find any errors. Please also note the forms above are currently out of date. The new patient information and consent forms are being translated and will be available in due course.