GNE Registry


Due to the nature of ultra-rare diseases, scientific approaches differ from common diseases. Finding enough patients that might be eligible to participate in trials for rare neuromuscular conditions can take years without a patient registry, delaying the testing of potential therapies. To address this challenge the international GNE registry was set up.

“The GNE registry is a part of GNE Myopathy Disease Monitoring Program (GNEM-DMP).”

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.

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GNE Natural History Study

The Natural history study is a second part of the GNEM-DMP. It assesses quality of life, perform clinical and physiotherapy assessment, and analyse biomarkers to assess natural progression of the disease. The study is currently open for recruitment in Newcastle upon Tyne (the only site in the UK) also in the USA, Canada, France and Bulgaria. The team there are recruiting people who are over 18 years old, and who have genetically confirmed hereditary inclusion body myopathy.

Find out more

GNE Myopathy Disease Monitoring Program


World-wide distribution of registry participants in the GNEM-DMP as of June 2015


GNEM-DMP Newsletters are produced at regular intervals throughout the year to bring you news of exciting developments about the study, clinical trials and patient involvement. Below are the latest GNEM-DMP Newsletters:

  • Issue 2 – April 2015
  • Issue 1 – December 2014

+44 191 2418640

GNE clinical trial

Phase 3 Randomized, Double-Blind, Placebo-Controlled study to evaluate Sialic Acid in patients with GNE myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM).

A Phase 3 clinical study is scheduled to start in 2015. The Phase 3 study will gather more information about the safety and effectiveness of Aceneuramic Acid (sialic acid extended release) in a larger number of people affected by GNE myopathy. The study will take place in Newcastle (the only study site in the UK) also in selected centres in USA, Canada, France, Italy, Bulgaria and Israel.

More information