Sleep‐related symptoms and sleep‐disordered breathing in adult <scp>P</scp>ompe disease

Boentert, Matthias; Karabul, Nesrin; Wenninger, Stephan; Stubbe-Dräger, Bianca; Mengel, Eugen; Schöser, Benedikt; Young, Peter

doi:10.1111/ene.12582

Cited by 54 publications

(62 citation statements)

References 27 publications

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“…Mellies et al were the first to explore sleep-disordered breathing in late onset Pompe disease, showing the increased prevalence of obstructive sleep apnea (OSA) and hypoventilation in this group. Late-onset Pompe patients have a high prevalence of poor sleep quality, fatigue, sleepiness, sleep apnea, and hypoventilation [Mellies et al, 2001;Boentert et al, 2014]. Similarly, we reported a high prevalence of sleep-disordered breathing amongst patients with infantile-onset Pompe disease [Kansagra et al, 2013].…”

Section: Introductionsupporting

confidence: 66%

Longitudinal polysomnographic findings in infantile Pompe disease

Kansagra

Austin

DeArmey

et al. 2015

American J of Med Genetics Pt A

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Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which predisposes children to sleep-disordered breathing. With the advent of enzyme replacement therapy (ERT), children are living longer, and there is a new natural history that is emerging. In a prior paper on our cohort of infantile Pompe disease patients, we reported a high incidence of both hypoventilation and obstructive sleep apnea (OSA). In this retrospective study, we analyzed longitudinal nocturnal polysomnography results from 10 patients with infantile-onset Pompe disease, all of which were on enzyme replacement therapy for a mean of 34.9 months at the time of follow-up study. Patients demonstrated relative stability in sleep disordered breathing, with a trend towards improvement in both OSA and central sleep apnea. ERT may help in the treatment of sleep apnea in this cohort.

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Section: Introductionsupporting

confidence: 66%

Longitudinal polysomnographic findings in infantile Pompe disease

Kansagra

Austin

DeArmey

et al. 2015

American J of Med Genetics Pt A

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“…Dyspnea, which results in an increased sense of effort, is a subjective sensation of breathing discomfort, likened to being smothered or suffocated. Nocturnal hypoventilation disrupts normal sleep architecture, initially in REM sleep leading to excessive daytime fatigue and morning headaches due to hypercapnia [11, 12]. Other symptoms of nocturnal hypoventilation, include insomnia, hypersomnolence, or impaired cognition.…”

Section: Introductionmentioning

confidence: 99%

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Schöser

Fong

Geberhiwot

et al. 2017

Orphanet J Rare Dis

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Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal inspiratory pressure (MIP), a sensitive measure of respiratory muscle strength, one of several useful tests of respiratory muscle strength, is gaining interest as a therapeutic clinical trial endpoint for NMD. In this comprehensive review we investigate the use of MIP as a measure of respiratory muscle strength in clinical trials of therapeutics targeting respiratory muscle, examine the correlation of MIP with survival, quality of life, and other measures of pulmonary function, and outline the role of MIP as a clinically significantly meaningful outcome measure. Our analysis supports the utility of MIP for the early evaluation of respiratory muscle strength, especially of the diaphragm, in patients with NMD and as a surrogate endpoint in clinical trials of therapies for NMD.

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“…In LOPD, symptoms of respiratory muscle weakness are common and correlate with self-reported sleep quality, fatigue, and impaired daytime performance. 3 Our study underlines that the presence of SDB may be associated with increased fatigue and significantly reduces HRQoL in both physical and mental aspects.…”

Section: Discussionmentioning

confidence: 57%

“…It seems surprising that the SF-36 PCS score appeared to decrease again between timepoints T2 and T6. However, we previously showed that physical HRQoL is more reduced in patients using NIV than in patients without home ventilatory support, 3 which may be attributed to various aspects such as older age, more rapid functional deterioration with more advanced disease, and the use of long-term positive pressure ventilation itself.…”

Section: Discussionmentioning

confidence: 96%

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

Boentert

Dräger

Glatz

et al. 2016

Journal of Clinical Sleep Medicine

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Study Objectives: In neuromuscular disease, non-invasive ventilation (NIV) is indicated if sleep-disordered breathing (SDB) or significant respiratory muscle weakness (RMW) is present. We investigated immediate and long-term effects of NIV on sleep and nocturnal ventilation in patients with late-onset Pompe disease (LOPD). Methods: Polysomnography and transcutaneous capnometry were performed in 22 adult patients. If indicated, NIV was initiated the subsequent night and follow-up sleep studies were scheduled. Sleep quality and health-related quality of life (HRQoL) were self-assessed using standard questionnaires. Results: Fourteen patients received enzyme replacement therapy (ERT), five patients were treatment-naïve, and three individuals had previously stopped ERT. Fifteen patients reported symptoms of SDB, all showing abnormal sleep studies. Two patients had obstructive sleep apnea (OSA), three patients showed both OSA and nocturnal hypercapnia, four individuals had nocturnal hypercapnia, and two patients had both OSA and daytime hypercapnia. Four patients showed normal apnea-hypopnea index and CO 2 measures but nocturnal tachypnea, orthopnea, and significant RMW were present. Supine forced vital capacity (FVC) and positional drop of FVC were independent predictors of SDB. In patients with SDB, HRQoL was significantly reduced. NIV was initiated in 15 individuals and led to significant improvement of ventilation and oxygenation in the first night of treatment. Follow-up sleep studies revealed stable normoxia and normocapnia without deterioration of sleep outcomes for up to 40 months. Conclusions: In LOPD, SDB is common and comprises both hypoventilation and OSA. NIV significantly improves respiration already in the first night of treatment. NIV warrants nocturnal long-term normoventilation without deterioration of sleep quality. Keywords: noninvasive ventilation, polysomnography, Pompe disease, respiratory muscle weakness, sleep-disordered breathing Citation: Boentert M, Dräger B, Glatz C, Young P. Sleep-disordered breathing and effects of noninvasive ventilation in patients with late-onset Pompe disease. J Clin Sleep Med 2016;12(12):1623-1632. I NTRO DUCTI O NPompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of the α-1,4-glucosidase (GAA) enzyme. Glycogen accumulation results in lysosomal dysfunction, autophagy, and progressive tissue damage.1 Early infantile-onset Pompe disease is characterized by quadriplegia and fatal hypertrophic cardiomyopathy if enzyme replacement therapy (ERT) is not available. The term late-onset Pompe disease (LOPD) comprises subtypes with late-infantile, childhood, juvenile, or adult disease manifestation. LOPD lacks major cardiac involvement and is characterized by progressive myopathy of the limb-girdle muscles, the trunk muscles, and the diaphragm.2 Respiratory muscle weakness manifests as nocturnal hypoventilation first, eventually leading to sleep disruption, morning headache, fatigue, and excessive daytime sleepiness.3 In addition, patients...

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Sleep‐related symptoms and sleep‐disordered breathing in adult Pompe disease

Abstract: In adult Pompe disease, sleep disturbances are a common cause of excessive daytime sleepiness and fatigue. Sleep-related symptoms may be indicative of respiratory muscle weakness and should give rise to further work-up of sleep-disordered breathing.

Cited by 54 publications

References 27 publications

Longitudinal polysomnographic findings in infantile Pompe disease

Longitudinal polysomnographic findings in infantile Pompe disease

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

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