G.P.259: Nationwide patient registry of GNE myopathy in Japan

Abstract

<i>Objective</i>: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. For upcoming clinical trials, to develop a nationwide patient registry for GNE myopathy is necessary. <i>Methods</i>: We retrospectively reviewed medical records of genetically confirmed patients with GNE myopathy and drafted core examination data that reflects severity and progression of the disease. We also referred items in the datasheet for the nationwide registry of dystrophinopathy patients in the Registry of Muscular Dystrophies (REMUDY). <i>Results</i>: Selected items for registration sheet included age, sex, age at onset, past history and complications, information about family history, body weight and height, information and pathological findings of muscle biopsy, grip powers, walking ability, respiratory functions, cardiac functions, willing to join upcoming clinical trials, and participation of any patient associations. A copy of original report of mutation report is required. Currently, 121 patients had been registered from countrywide. 93 physicians in 73 hospitals were collaborated. Average onset age of the disease was 27.7±9.6years, and 19.8% (24/121) of the patients could walk withouthelp. Mean presumed duration from onset to lost ambulation was 21.1years. Of note, three patients had a past history and/or a complication of idiopathic thrombocytopenia. To share the update progress of the disease, we published newsletters on a regular basis, including information of newly opened phase I clinical trials for GNE myopathy and care for respiratory insufficiency. Conclusion. The patient registry for GNE myopathy in Japan is useful for understanding the disease, and recruiting genetically confirmed GNE myopathy patients to the upcoming clinical trials.