Motoo Yamauchi1, Hideaki Nakayama2,3, Satomi Shiota4, Yasuyoshi Ohshima5, Jiro Terada6, Tsuguo Nishijima7, Motomichi Kosuga8, Takuro Kitamura9, Naoko Tachibana10, Takuya Oguri11, Ryutaro Shirahama12, Yasuhiro Aoki13, Keiko Ishigaki14, Kazuma Sugie15, Tomoko Yagi16, Hisae Muraki17, Yukio Fujita18, Tsunenori Takatani19, Shigeo Muro18. 1. Department of Respiratory Medicine, Nara Medical University, 840 Shijo-cho, Kashihara, Nara, 634-8522, Japan. motoo@naramed-u.ac.jp. 2. Department of Somnology, Tokyo Medical University, Tokyo, Japan. 3. Japan Somnology Center, Institute of Neuropsychiatry, Tokyo, Japan. 4. Division of Respiratory Medicine, Juntendo University Faculty of Medicine & Graduate School of Medicine, Tokyo, Japan. 5. Department of Respiratory Medicine and Infectious Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. 6. Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan. 7. Division of Behavioral Sleep Medicine, Iwate Medical University School of Medicine, Morioka, Japan. 8. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan. 9. Department of Otorhinolaryngology-Head and Neck Surgery, University of Occupational and Environmental Health, Fukuoka, Japan. 10. Center for Sleep-Related Disorders, Kansai Electric Power Hospital, Osaka, Japan. 11. Department of Neurology, Tosei General Hospital, Aichi, Japan. 12. RESM Respiratory and Sleep Medical-Care Clinic, Yokohama, Japan. 13. Department of Respiratory Medicine, Prana Clinic, Saitama, Japan. 14. Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan. 15. Department of Neurology, Nara Medical University, Nara, Japan. 16. Ota General Hospital, Kanagawa, Japan. 17. Osaka Kaisei Hospital, Osaka, Japan. 18. Department of Respiratory Medicine, Nara Medical University, 840 Shijo-cho, Kashihara, Nara, 634-8522, Japan. 19. Department of Anesthesiology, Nara Medical University, Nara, Japan.
Abstract
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the acid α-glucosidase (GAA) enzyme. GAA deficiency induces progressive glycogen accumulation which leads to weakness of the respiratory muscle including the diaphragm. Pompe disease is one of the few myopathies, for which an established therapy is available. Thus, earlier detection of potential late-onset Pompe disease (LOPD) and earlier intervention would have a significant clinical impact. 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 ).
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the acid α-glucosidase (GAA) enzyme. GAA deficiency induces progressive glycogen accumulation which leads to weakness of the respiratory muscle including the diaphragm. Pompe disease is one of the few myopathies, for which an established therapy is available. Thus, earlier detection of potential late-onset Pompe disease (LOPD) and earlier intervention would have a significant clinical impact. 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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