The impact of interrupting enzyme replacement therapy in late-onset Pompe disease

Wenninger, Stephan; Gutschmidt, Kristina; Wirner, Corinna; Einvag, Krisztina; Montagnese, Federica; Schöser, Benedikt

doi:10.1007/s00415-021-10475-z

Cited by 6 publications

(7 citation statements)

References 20 publications

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“…Our juvenile-onset Pompe patient, with pre-existent respiratory impairment and nocturnal ventilation support, did not show any further respiratory deterioration. The clinical picture led to a very short ERT discontinuation, in keeping with the recommendation of Wenninger et al, who, in a prospective cohort study of 12 patients with late-onset Pompe disease, showed that the interruption of ERT was associated with a deterioration in the core clinical outcome measures [13].…”

Section: Discussionsupporting

confidence: 81%

COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center

et al. 2021

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Understanding the potential risks of patients with inherited metabolic disorder (IMD) exposed to the COVID-19 pandemic is an unmet need for those involved in their management. Here, we report on the incidence of COVID-19 in a cohort of patients with IMD treated at a children’s hospital and compare them with a matched control group. Among the total number of 272 patients actively followed at a referral center, 19 (7%) tested positive for SARS-CoV-2 between March 2020 and March 2021. Their median age was 16.2 years (range 1.4–32.8 years). In two-thirds of the cases, the source of infection was a family member; 12/19 patients (63%) were asymptomatic, only one required hospitalization, and none of them died. In our single-center experience, COVID-19 had a moderate impact on a relatively large cohort of patients with IMD, including children and young adults. The clinical course was very mild in all but one case. The proportion of symptomatic cases and the clinical course were comparable in patients with IMD and in a group of matched, non-IMD COVID-19 controls from the general population.

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Section: Discussionsupporting

confidence: 81%

COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center

et al. 2021

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“…We observed a decrease of approximately 10% on 6MWT and 4% of FVC between ERT stop and ERT restart for an interruption of 2 months; that is on the same order as observed in the Swiss cohort. The recent German experience of ERT interruption during lockdown included 12 patients with a different methodology (comparison with estimate endpoints) and had less statistical power to demonstrate a decline [11]. However, the results were on the same order; the interruption was also short (approximately 7 weeks), with an increase in fatigability, shortness of breath, falls, and a diminution of FVC approximately 3% of predicted.…”

Section: Discussionmentioning

confidence: 99%

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic

Michaud

Pakleza

Durr

et al. 2022

Euro J of Neurology

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Background and purpose: Data on interruption of enzyme replacement therapy (ERT) are scarce in late onset Pompe disease. Due to the COVID-19 crisis, eight neuromuscular reference centers in France were obligated to stop the treatment for 31 patients. Methods:We collected the motor and respiratory data from our French registry, before COVID-19 and at treatment restart.Results: In 2.2 months (mean), patients showed a significant deterioration of 37 m (mean) in the 6-min walk test and a loss of 210 ml (mean) of forced vital capacity, without ad integrum restoration after 3 months of ERT restart. Conclusions:This national study based on data from the French Pompe Registry shows that the interruption of ERT, even as short as a few months, worsens Pompe patients' motor and respiratory function.

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“…However, the clinical outcomes of LOPD patients are heterogeneous 11 . In addition, short-time ERT interruption was associated with clinical deterioration 12 .…”

Section: Discussionmentioning

confidence: 99%

Clinical evolution of late-onset Pompe disease: a case report

Guerra

Garcia²,

Morita³

et al. 2022

Rev Neurocienc

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Introduction. Pompe disease is an inherited metabolic myopathy due to lysosomal glycogen deposition in the absence or reduction of acid maltase enzyme activity. The worldwide prevalence of the disease ranges from 1:40,000 to 1:200,000 and it affects children and adults. Objective. This study aims to report the case of a patient diagnosed with the late form of Pompe disease. Case Report. A 44-year-old female patient had the onset of symptoms of Pompe disease at the age of 14, presenting difficulty in walking and frequent falls. The disease was diagnosed three years later. At the age of 44 and after using enzyme therapy replacement (TER) for 12 years, the clinical condition evolved into quadriplegia and involvement of the respiratory and orofacial muscles, despite the use of enzyme replacement therapy for 12 years. Conclusion. Despite the use of ERT and the care provided by a multidisciplinary team, the patient evolved with an unfavorable clinical outcome. Therefore, early diagnosis, level of enzyme activity, and response to treatment with enzyme replacement are essential for the disease prognosis.

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The impact of interrupting enzyme replacement therapy in late-onset Pompe disease

Cited by 6 publications

References 20 publications

COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center

COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic

Clinical evolution of late-onset Pompe disease: a case report

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