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).
Hypoventilation
Late-onset Pompe disease
Pompe disease
Prevalence
Respiratory physiology
Sleep disordered breathing
Journal
Sleep & breathing = Schlaf & Atmung
ISSN: 1522-1709
Titre abrégé: Sleep Breath
Pays: Germany
ID NLM: 9804161
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
12
07
2020
accepted:
10
08
2020
revised:
06
08
2020
pubmed:
19
8
2020
medline:
21
12
2021
entrez:
19
8
2020
Statut:
ppublish
Résumé
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. 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). 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. 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). The distribution in respiratory physiology between during wakefulness and sleep specific to LOPD may provide insights into early-stage detection. UMIN000039191, UMIN Clinical Trials Registry ( http://www.umin.ac.jp/ctr ).
Sections du résumé
BACKGROUND
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
OBJECTIVE
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
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
RESULTS
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
CONCLUSIONS
The distribution in respiratory physiology between during wakefulness and sleep specific to LOPD may provide insights into early-stage detection.
CLINICAL TRIAL REGISTRATION NUMBER
BACKGROUND
UMIN000039191, UMIN Clinical Trials Registry ( http://www.umin.ac.jp/ctr ).
Identifiants
pubmed: 32808237
doi: 10.1007/s11325-020-02170-6
pii: 10.1007/s11325-020-02170-6
doi:
Types de publication
Journal Article
Multicenter Study
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
695-704Subventions
Organisme : Investigator-Sponsored Study grant from Sanofi
ID : SGZ-2018-12403
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