Nationwide patient registry for GNE myopathy in Japan

Orphanet Journal of Rare Diseases

En Kimura³  Ichizo Nishino³  Shin¿ichi Takeda²  Miho Murata⁴  Harumasa Nakamura³  Naohiro Yonemoto³  Yukiko K Hayashi¹  Madoka Mori-Yoshimura⁴ 

[1]Department of Neurophysiology, Tokyo Medical University, 6-1-1 Shinjuku, Shinjuku 160-8402, Tokyo, Japan

[2]Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira 187-8502, Tokyo, Japan

[3]Translational Medical Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira 187-8551, Tokyo, Japan

[4]Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira 187-8551, Tokyo, Japan

关键词: Patient registry;    Remudy;    Natural history;    Distal myopathy with rimmed vacuoles (DMRV);    GNE myopathy;   

Others  :  1149683
DOI  :  10.1186/s13023-014-0150-4

 received in 2014-05-28, accepted in 2014-09-16,  发布年份 2014

【 摘 要 】

Background

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. 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.

Methods

Medical 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.

Results

We 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.

Conclusion

The 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.

【 授权许可】

   
2014 Mori-Yoshimura et al.; licensee BioMed Central Ltd.

【 图 表 】

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