GNE Registry

The GNE Myopathy (GNEM) Registry is currently offline. For all enquiries, please contact the Registry Team at or by telephone on +44 (0)191 241 8605.

GNE myopathy is also known as Hereditary Inclusion Body Myopathy (HIBM), Quadriceps-Sparing Myopathy (QSM), Distal Myopathy with Rimmed Vacuoles (DMRV), Nonaka Myopathy or IBM Type 2. It is an ultra-rare autosomal recessive distal myopathy due to mutations in the GNE gene. The first symptom of GNE myopathy is often foot drop. Progressive worsening leads to difficulties climbing stairs or getting up from sitting, and weakness of the hands and shoulder muscles. The condition is now usually confirmed by a genetic test. There are no current approved treatments for GNE myopathy.

Due to the nature of ultra-rare diseases, scientific approaches differ from those for common diseases. Finding enough patients that might be eligible to participate in trials can take years, delaying the development of potential therapies. Patient registries can help to address this challenge.

The GNEM Registry is an international patient self-reported registry. We welcome all GNE myopathy 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 the history of their GNE myopathy presentation and progression, quality of life, mobility, and genetic test.