Article record

在疑似睡眠呼吸暂停个体中筛查潜在的晚发型庞贝病患者：一项日本前瞻性、多中心观察性队列研究（PSSAP-J研究）

Screening for potential late-onset Pompe disease patients among individuals with suspected sleep apnea: A prospective, multicenter observational Cohort Study in Japan (PSSAP-J Study).

临床研究鼻科IF 2.8Q3

文献信息

PMID	42745077
原文	在 PubMed 查看原文 ↗
发表日期	2026
作者	Motoo Yamauchi 查看其他 16 位作者 Ryutaro Shirahama；Satomi Shiota；Tsuguo Nishijima；Hideaki Nakayama；Yasuyoshi Ohshima；Motomichi Kosuga；Jiro Terada；Takuya Oguri；Yasuhiro Aoki；Keiko Ishigaki；Kazuma Sugie；Tomoko Yagi；Hisae Muraki；Yukio Fujita；Tsunenori Takatani；Shigeo Muro
作者单位	Department of Clinical Pathophysiology of Nursing, Nara Medical University, 88 Shijo-Cho, Kashihara, Nara, 634-8524, Japan. motoo@naramed-u.ac.jp. 查看其他 18 条单位信息 Department of Respiratory Medicine, Nara Medical University, Nara, Japan. motoo@naramed-u.ac.jp.；RESM Respiratory and Sleep Medical-Care Clinic, Yokohama, Japan.；Division of Respiratory Medicine, Juntendo University Faculty of Medicine & Graduate School of Medicine, Tokyo, Japan.；Division of Behavioral Sleep Medicine, Iwate Medical University School of Medicine, Morioka, Japan.；Department of Somnology, Tokyo Medical University, Tokyo, Japan.；Japan Somnology Center, Institute of Neuropsychiatry, Tokyo, Japan.；Department of Respiratory Medicine and Infectious Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.；Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.；Department of Respiratory Medicine, Japanese Red Cross Narita Hospital, Chiba, Japan.；Department of Neurology, Tosei General Hospital, Aichi, Japan.；Department of Respiratory Medicine, Prana Clinic, Saitama, Japan.；Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.；Department of Neurology, Nara Medical University, Nara, Japan.；School of Medical Technology, Kurume University School of Medicine, Fukuoka, Japan.；Asahi University Hospital, Gifu, Japan.；Department of Respiratory Medicine, Nara Medical University, Nara, Japan.；Department of Nutrition Management, Nara Medical University Hospital, Nara, Japan.；Department of Anesthesiology, Nara Medical University, Nara, Japan.
期刊	Sleep & breathing = Schlaf & Atmung
SCI 分区	Q3
IF	2.8
研究类型	临床研究 · 临床
所属专科	鼻科

中文摘要

背景： 庞贝病是一种由酸性α-葡萄糖苷酶（GAA）缺乏引起的常染色体隐性遗传病。这种缺乏会导致糖原进行性积累，进而引起包括膈肌在内的呼吸肌无力。由于庞贝病已有成熟的酶替代疗法，因此更早发现潜在的晚发型庞贝病（LOPD）并进行后续干预将具有重要的临床意义。
目的： 我们的假设是，包括睡眠呼吸障碍（SDB）和临床症状在内的睡眠问题可能提示LOPD的早期阶段，因为呼吸肌活动下降通常首先在睡眠期间表现出来。PSSAP-J研究的主要目的是证明在基于睡眠实验室的人群中LOPD的患病率更高。次要目的包括从诊断性多导睡眠图（PSG）结果和临床症状中识别LOPD的预测因素。
方法： 这项前瞻性多中心观察性队列研究连续纳入了因疑似SDB而到睡眠实验室接受夜间PSG的患者。所有患者均接受了干血斑（DBS）筛查以检测GAA活性。在需要时，进行了GAA基因的遗传分析以进行确诊检测。
结果： 共分析了724名参与者，尽管COVID-19疫情导致未能达到目标样本量（n=1500）。在完成确诊检测的人群中，未确认任何明确的LOPD病例（患病率0%；95%置信区间[CI]，0.00%-0.51%）。然而，有7名筛查阳性患者拒绝接受确诊检测，被归类为不确定病例。因此，我们无法明确确定该人群中LOPD的患病率更高或识别其预测因素。
结论： 尽管由于样本量不足和存在不确定病例而无法确认主要研究目的，但我们的发现强调了睡眠医师在临床实践中对LOPD等潜在肌病保持高度警惕的重要性。
临床试验注册： UMIN000039191，UMIN临床试验注册库（http://www.umin.ac.jp/ctr）。

英文摘要

BACKGROUND: Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA) enzyme. This deficiency induces progressive glycogen accumulation, leading to weakness of the respiratory muscle, including the diaphragm. As established enzyme replacement therapy is available for Pompe disease, earlier detection of potential Late-Onset Pompe Disease (LOPD) and subsequent intervention would have a significant clinical impact.
PURPOSE: Our hypothesis was that sleep problems, including sleep-disordered breathing (SDB) and clinical symptoms, may indicate an early stage of LOPD, since decreased respiratory muscle activity often presents initially during sleep. The primary aim of the PSSAP-J study was to demonstrate a higher prevalence of LOPD in a sleep-laboratory-based population. Secondary aims included identifying predictive factors for LOPD from diagnostic polysomnography (PSG) findings and clinical symptoms.
METHODS: This prospective multicenter observational cohort study enrolled consecutive patients presenting to sleep laboratories for overnight PSG due to suspected SDB. All patients underwent a Dried Blood Spot (DBS) screening for GAA activity. Genetic analysis of the GAA gene was performed for confirmatory testing when indicated.
RESULT: A total of 724 participants were analyzed, although the COVID-19 pandemic prevented reaching the target sample size (n = 1,500). No definitive LOPD cases were confirmed among those who completed the confirmatory testing (prevalence 0%; 95% confidence interval [CI], 0.00%-0.51%). However, seven screen-positive patients declined confirmatory testing and were classified as indeterminate cases. Consequently, we could not definitively establish a higher prevalence or identify predictive factors for LOPD in this population.
CONCLUSION: Although the primary study aims could not be confirmed due to the sample size shortfall and the presence of indeterminate cases, our findings highlight the importance for sleep physicians to maintain a high index of suspicion for underlying myopathies, such as LOPD, in clinical practice.
CLINICAL TRIAL REGISTRATION: UMIN000039191, UMIN Clinical Trials Registry ( http://www.umin.ac.jp/ctr ).