Nationwide patient registry for GNE myopathy in Japan.

Madoka Mori-Yoshimura,Shin’ichi Takeda,Ichizo Nishino,Yukiko K Hayashi,Miho Murata,Naohiro Yonemoto,En Kimura,Harumasa Nakamura

doi:10.1186/s13023-014-0150-4

Abstract

BackgroundGNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. This study aimed to (1) develop a nationwide patient registry for GNE myopathy in order to facilitate the planning of clinical trials and recruitment of candidates, and (2) gain further insight into the disease for the purpose of improving therapy and care.MethodsMedical records of genetically-confirmed patients with GNE myopathy at the National Center Hospital of the National Center of Neurology and Psychiatry (NCNP) were retrospectively reviewed in order to obtain data reflecting the severity and progression of the disease. We also referred to items in the datasheet of the nationwide registry of dystrophinopathy patients in the Registry of Muscular Dystrophies (Remudy). Items selected for the registration sheet included age, sex, age at onset, past history and complications, family history, body weight and height, pathological findings of muscle biopsy, grip power, walking ability, respiratory function, cardiac function, willingness to join upcoming clinical trials, and participation in patient associations. A copy of the original genetic analysis report was required of each patient.ResultsWe successfully established the Remudy-GNE myopathy. Currently, 121 patients are registered nationwide, and 93 physicians from 73 hospitals collaborated to establish the registry. The mean age at onset was 27.7 ± 9.6 years, and 19.8% (24/121) of patients could walk without assistance. Mean presumed durations from onset to use of assistive devices (cane and/or braces) and a wheelchair, and loss of ambulation were 12.4, 15.2, and 21.1 years, respectively. Three patients had a past history and/or complication of idiopathic thrombocytopenia. To share the progress of this study with the community, newsletters were published on a regular basis, and included information regarding new phase I clinical trials for GNE myopathy. The newsletters also served as a medium to bring attention to the importance of respiratory evaluation and care for respiratory insufficiency.ConclusionThe Japanese Remudy-GNE myopathy is useful for clarifying the natural history of the disease and recruiting patients with genetically-confirmed GNE myopathy for clinical trials.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-014-0150-4) contains supplementary material, which is available to authorized users.

Highlights

Glucosamine-2-epimerase/N-acetylmannosamine kinase (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
In 2009, we developed a national registry for neuromuscular diseases (Registry of MUscular DYstrophy; Registry of Muscular Dystrophies (Remudy). http:// www.remudy.jp/) in Japan in collaboration with the TREAT-MND ALLIANCE in order to aid in the recruitment of eligible patients for clinical trials, provide information regarding the natural history and epidemiology of diseases, and serve as a source of information on current clinical care [13]
Given that GNE myopathy is quite rare and the fact that clinical trials have already begun on this disease, the establishment of a patient registry is urgently needed, as it would allow for the early recruitment of patients in future clinical trials

Summary

Introduction

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. Registries for rare diseases are broadly accepted for their usefulness in obtaining epidemiological data and patient recruitment for clinical trials [10] Translational Research in Europe–Assessment and Treatment of Neuromuscular Diseases (TREAT-MND ALLIANCE), a research network for neuromuscular disorders, developed a global database for patients with Duchenne muscular dystrophy (DMD) [11], spinal muscular atrophy, alphadystroglycanopathy with mutations in FKRP, and dysferlinopathy [12]. Http:// www.remudy.jp/) in Japan in collaboration with the TREAT-MND ALLIANCE in order to aid in the recruitment of eligible patients for clinical trials, provide information regarding the natural history and epidemiology of diseases, and serve as a source of information on current clinical care [13]. We intend to expand the registry to include patients with GNE myopathy

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Conclusion