Potential Patient Screening for Late-Onset Pompe Disease in Suspected Sleep Apnea

Conditions

Late-Onset Pompe Disease

Yamauchi M, Shirahama R, Shiota S, Nishijima T, Nakayama H, Ohshima Y, Kosuga M, Terada J, Oguri T, Aoki Y, Ishigaki K, Sugie K, Yagi T, Muraki H, Fujita Y, Takatani T, Muro S.

2026-09-15

10.1007/s11325-026-03796-8

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).

Yamauchi M, Nakayama H, Shiota S, Ohshima Y, Terada J, Nishijima T, Kosuga M, Kitamura T, Tachibana N, Oguri T, Shirahama R, Aoki Y, Ishigaki K, Sugie K, Yagi T, Muraki H, Fujita Y, Takatani T, Muro S.

2020-08-18

10.1007/s11325-020-02170-6

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patients who visit sleep lab by themselves and who are referred from general practitioners and/or other specialists including neurologist for the purpose of the evaluation of any sleep problem will be included. A range of age is limited from 18 to 80 years old.

Exclusion criteria

Exclusion criteria: Patients who are already diagnosed with a neurologic/neuromuscular disorder and who are previously diagnosed with sleep disordered breathing will be excluded. Also, patients who are under treatment for psychiatric disorders will be excluded as well. In addition, patients whose body mass index (BMI) is more than 30 will be excluded.

Design outcomes

Primary

Measure	Time frame
The prevalence of LOPD among the enrolled participants.	—

Secondary

Measure	Time frame
The differences between LOPD patients and subject controls (non-LOPD) are compared regarding the presence of symptoms as well as findings in the diagnostic PSG.	—

Countries

Japan

Contacts

Public ContactMotoo Yamauchi

Nara Medical University Department of Pathophysiology of Nursing

motoo@naramed-u.ac.jp0744-22-3051

Outcome results