Abstract | BACKGROUND: PURPOSE: Our hypothesis is that sleep problems including sleep disordered breathing (SDB) and clinical symptoms may indicate an early stage of LOPD since decreased respiratory muscle activity generally first presents during sleep. Thus, the aims of this prospective, multicenter observational cohort study in Japan (PSSAP-J) are to demonstrate a higher prevalence of LOPD in a sleep lab-based population (primary outcome), and to identify predictive factors for LOPD from findings in diagnostic polysomnography (PSG) and clinical symptoms (secondary outcomes). METHODS: The study design is a prospective multicenter observational cohort study. Consecutive patients who present to sleep labs due to suspected SDB for an overnight PSG will be enrolled. All patients will be measured for creatine kinase, GAA activity, and if necessary, genetic analysis of GAA. Furthermore, chest X-ray, pulmonary function test, and arterial blood gas analysis will be collected. Then, prevalence and specific findings of LOPD will be assessed. RESULT: Congenital myopathy shows a shift from slow-deep to rapid-shallow breathing during transition from wakefulness to sleep accompanying a symptom of waking with gasping (actual further results are pending). DISCUSSION: The distribution in respiratory physiology between during wakefulness and sleep specific to LOPD may provide insights into early-stage detection. CLINICAL TRIAL REGISTRATION NUMBER: UMIN000039191, UMIN Clinical Trials Registry ( http://www.umin.ac.jp/ctr ).
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Authors | Motoo Yamauchi, Hideaki Nakayama, Satomi Shiota, Yasuyoshi Ohshima, Jiro Terada, Tsuguo Nishijima, Motomichi Kosuga, Takuro Kitamura, Naoko Tachibana, Takuya Oguri, Ryutaro Shirahama, Yasuhiro Aoki, Keiko Ishigaki, Kazuma Sugie, Tomoko Yagi, Hisae Muraki, Yukio Fujita, Tsunenori Takatani, Shigeo Muro |
Journal | Sleep & breathing = Schlaf & Atmung
(Sleep Breath)
Vol. 25
Issue 2
Pg. 695-704
(Jun 2021)
ISSN: 1522-1709 [Electronic] Germany |
PMID | 32808237
(Publication Type: Journal Article, Multicenter Study, Observational Study)
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Topics |
- Age of Onset
- Early Diagnosis
- Glycogen Storage Disease Type II
(diagnosis, epidemiology)
- Humans
- Japan
(epidemiology)
- Mass Screening
- Polysomnography
- Prospective Studies
- Research Design
- Sleep Apnea Syndromes
(epidemiology)
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