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Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan.

ABSTRACT: BACKGROUND:GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric complications. OBJECTIVE:This study aimed to reveal maternal complications, newborn complications, and the impact of pregnancy on disease progression in GNE myopathy patients. METHODS:We conducted a questionnaire survey on pregnancy, delivery, and newborns involving female GNE myopathy patients who are currently registered in a national registry in Japan. RESULTS:The response rate for the questionnaire survey was 60.0% (72/120). Of the 72 respondents, 44 (61.1%) had pregnancy experience (average, 1.8 pregnancies; 53 pregnancies before onset and 28 after onset). The incidence of threatened abortion was 26.9% among post-onset pregnancies, which was higher compared to those of the general Japanese population (p?=?0.03). No other maternal or infant complications were commonly observed. Over 80% were unaware of changes in disease progression during pregnancy (mean age, 32.8?±?3.5?years) or after delivery (32.9?±?3.8?years), while 19.0% experienced disease exacerbation within a year after delivery (30.0?±?1.0?years). Six patients developed myopathy within a year after delivery (29.7?±?4.6?years), while none developed myopathy during pregnancy. CONCLUSIONS:There were no serious maternal or newborn complications, and subjective progression did not differ during or after delivery in the majority of GNE myopathy patients. However, our findings suggest the importance of considering the possibility of threatened abortion and disease progression after delivery.

SUBMITTER: Yoshioka W

PROVIDER: S-EPMC7488253 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan.

Yoshioka Wakako W Miyasaka Naoyuki N Okubo Ryo R Shimizu Reiko R Takahashi Yuji Y Oda Yuriko Y Nishino Ichizo I Nakamura Harumasa H Mori-Yoshimura Madoka M

Orphanet journal of rare diseases 20200911 1

<h4>Background</h4>GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric complications.<h4>Objective</h4>This study aimed to reveal maternal complications, newborn complications, and the impact of pregnancy on disease progression in GNE myopathy patients.<h4>Methods</h4>We conducted a questionnaire survey on p ...[more]

PMID: 32917266

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Project description: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.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.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.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.

Dataset Information

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan.

Publications

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan.

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