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Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study)

Sleep and Breathing volume 25, pages 695–704 (2021)Cite this article

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).

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Acknowledgments

The authors thank Prof. Kingman Strohl for the editorial assistance.

Funding

This study is supported by an Investigator-Sponsored Study grant from Sanofi (SGZ-2018-12403).

Author information

Affiliations

  1. Department of Respiratory Medicine, Nara Medical University, 840 Shijo-cho, Kashihara, Nara, 634-8522, Japan

    Motoo Yamauchi, Yukio Fujita & Shigeo Muro

  2. Department of Somnology, Tokyo Medical University, Tokyo, Japan

    Hideaki Nakayama

  3. Japan Somnology Center, Institute of Neuropsychiatry, Tokyo, Japan

    Hideaki Nakayama

  4. Division of Respiratory Medicine, Juntendo University Faculty of Medicine & Graduate School of Medicine, Tokyo, Japan

    Satomi Shiota

  5. Department of Respiratory Medicine and Infectious Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan

    Yasuyoshi Ohshima

  6. Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan

    Jiro Terada

  7. Division of Behavioral Sleep Medicine, Iwate Medical University School of Medicine, Morioka, Japan

    Tsuguo Nishijima

  8. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan

    Motomichi Kosuga

  9. Department of Otorhinolaryngology-Head and Neck Surgery, University of Occupational and Environmental Health, Fukuoka, Japan

    Takuro Kitamura

  10. Center for Sleep-Related Disorders, Kansai Electric Power Hospital, Osaka, Japan

    Naoko Tachibana

  11. Department of Neurology, Tosei General Hospital, Aichi, Japan

    Takuya Oguri

  12. RESM Respiratory and Sleep Medical-Care Clinic, Yokohama, Japan

    Ryutaro Shirahama

  13. Department of Respiratory Medicine, Prana Clinic, Saitama, Japan

    Yasuhiro Aoki

  14. Department of Pediatrics, School of Medicine, Tokyo Women’s Medical University, Tokyo, Japan

    Keiko Ishigaki

  15. Department of Neurology, Nara Medical University, Nara, Japan

    Kazuma Sugie

  16. Ota General Hospital, Kanagawa, Japan

    Tomoko Yagi

  17. Osaka Kaisei Hospital, Osaka, Japan

    Hisae Muraki

  18. Department of Anesthesiology, Nara Medical University, Nara, Japan

    Tsunenori Takatani

Authors
  1. Motoo Yamauchi
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  2. Hideaki Nakayama
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  3. Satomi Shiota
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  4. Yasuyoshi Ohshima
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  5. Jiro Terada
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  6. Tsuguo Nishijima
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  7. Motomichi Kosuga
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  8. Takuro Kitamura
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  9. Naoko Tachibana
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  10. Takuya Oguri
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  11. Ryutaro Shirahama
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  12. Yasuhiro Aoki
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  13. Keiko Ishigaki
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  14. Kazuma Sugie
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  15. Tomoko Yagi
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  16. Hisae Muraki
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  17. Yukio Fujita
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  18. Tsunenori Takatani
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  19. Shigeo Muro
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Contributions

Dr. Yamauchi is principal investigator and is responsible for the study concept and design and interpretation of data. Drs. Yamauchi, Nakayama, Shiota, Ohshima, Terada, Nishijima, Tachibana, Kitamura, Oguri, Shirahama, Aoki, Takatani, and Fujita are responsible for the data collection. Dr. Kosuga is responsible for the examination including genetic assay for diagnosis of Pompe disease. Drs. Ishigaki and Sugie are responsible for the clinical assessment and intervention to myopathy as an advisor. Drs. Yagi and Muraki are responsible for the review of PSG at each institute.

Corresponding author

Correspondence to Motoo Yamauchi.

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Disclosure

The funder had no role in the study design, data collection and analysis, and decision to publish or preparation of the manuscript.

Conflict of interest

Motoo Yamauchi received a research grant from Sanofi KK for this study (SGZ-2018-12403). All the other authors declare that they have no relevant conflict of interest.

Ethical approval

All procedures performed in studies involving human participants are in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent will be obtained from all individual participants included in the study.

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Appendices

Appendix 1

Table 1 Inquiry items and description
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Appendix 2

Table 2 Obtained polysomnographic parameters and definitions
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Yamauchi, M., Nakayama, H., Shiota, S. et al. Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study). Sleep Breath 25, 695–704 (2021). https://doi.org/10.1007/s11325-020-02170-6

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  • DOI: https://doi.org/10.1007/s11325-020-02170-6

Keywords

  • Pompe disease
  • Late-onset Pompe disease
  • Sleep disordered breathing
  • Hypoventilation
  • Respiratory physiology
  • Prevalence