GNE Myopathy Disease Monitoring Program

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 GNEM.
DMP logo - schematic

Introduction to the GNEM-DMP

The GNEM-DMP is a partnership between Newcastle University (UK) and Ultragenyx Pharmaceutical Inc. (USA) and is a program designed to improve the medical knowledge of GNE myopathy. There are two parts to the program: The patient-reported part, or online registry and the Physician reported part or the Natural History Study. The patient reported online registry was launched in March 2014 and is intended to connect patients and families with doctors and researchers by making sure that patient details are all collected in a single database or “registry” in a safe and ethical way. We hope that the registry will help the research and medical community better understand the disease and move forward in finding better treatment. The use of the data in the GNEM-DMP is governed by a team of researchers, doctors and patient representatives from USA, UK, Israel and Japan who constitute the Steering Committee.

GNE Registry page