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

Michaud, Maud; Pakleza, Aleksandra Nadaj; Durr, Hélène; Lefeuvre, Claire; Thomas, R. C.; Arrassi, Azzeddine; Taouagh, Nadjib; Laforêt, Pascal; David, Olivier; Bassez, Guillaume; Germain, D; Noury, JB; Zagnoli, Fabien; Tard, Céline; Davion, J-B; Salort‐Campana, Emmanuelle; Verschueren, Annie; Sacconi, Sabrina; Furby, Alain; Lacour, Arnaud; Praline, Julien; Solé, Guilhem; Renard, Dimitri; Bouibede, F; Fournier, Mario; Chapon, Françoise; Minot, MC; Spinazzi, Marco; Hubert, J.P.; Démurger, Florence; Magot, Armelle; Cintas, Pascal; Nadaj‐Pakleza, Aleksandra; Bouhour, Françoise; Morales, RJ; Esselin, Florence; Petiot, P.; Jaussaud, R.; Pichard, Samia; Brassier, Anaïs; Do‐Cao, J; Feillet, François; Touati, Guy; Echaniz‐Laguna, YA; Magy, Laurent; Lagrange, Emeline; Krim, E.; Taithe, F.; Bedat‐Millet, A.‐L.; Nollet, Sylvain; Walter‐Louvier, U; Chabrol, B.; Tardieu, M.

doi:10.1111/ene.15222

Cited by 8 publications

(4 citation statements)

References 11 publications

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“…In our study population, a cessation of ERT due to the pandemic was more common in patients residing in France. This corresponds with the uncertainty of ERT treatment during the pandemic already having been described in a French population [ 34 ]. This study concluded that interruption of ERT, even as short as a few months (mean 2.2 months), worsens a patient’s motor and respiratory function.…”

Section: Discussionmentioning

confidence: 65%

The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease

Theunissen,

van den Elsen,

House

et al. 2023

J Neurol

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Background Patients with Pompe disease, a rare metabolic myopathy, were thought to be at increased risk of severe COVID-19 disease during the pandemic. In addition, the lockdown may have affected their regular treatment. Objective To assess the perceived effect of COVID-19 infection and of the pandemic on the treatment, and physical and mental health of patients with Pompe disease. Methods Patients with Pompe disease over 16 years of age participated in an international, cross-sectional, online survey (September 20, 2022–November 7, 2022). The questionnaire, available in eight languages, consisted of 89 questions divided into 3 parts: (A) severity of Pompe disease, (B) COVID-19 precautions and infection(s) and (C) effects of the COVID-19 pandemic. Results Among 342 respondents, originating from 25 different countries, 47.6% experienced one or more COVID-19 infections. While most recovered within 4 weeks (69.7%) and only eight patients needed to be admitted to the hospital, 42.2% of patients experienced an impact of the infection on their overall condition, respiratory status and/or mobility status. More severely affected patients took more stringent control measures. The pandemic additionally caused interruptions in medical care in many patients (56.0%) and 17.2% of patients experienced interruptions of enzyme replacement therapy. The pandemic also affected many patients’ disease severity (27.7%), mental health (55.4%) and feeling of loneliness (43.4%). Conclusion COVID-19 infection(s) and the pandemic affected the treatment, physical health and mental health of patients with Pompe disease, emphasizing the importance of continued patient centered care during a difficult time such as the COVID-19 pandemic.

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Section: Discussionmentioning

confidence: 65%

The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease

Theunissen,

van den Elsen,

House

et al. 2023

J Neurol

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“…11 They also confirmed that the 6MWT was more sensitive than ActivLim ("Activity Limitations"). 17,18 The MFM scale has proved useful and is widely used to assess muscle function. It can be used to evaluate disease severity, regardless of disease stage, including, in particular, the D1 dimension, which evaluates standing activities and transfers, the score for which is well correlated with 6MWT and MMT results.…”

Section: Discussionmentioning

confidence: 99%

Characteristics of Patients With Late-Onset Pompe Disease in France

Lefeuvre

Antonio²,

Bouhour

et al. 2023

Neurology

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Background and objectives:The French Pompe disease registry was created in 2004, for studies of the natural course of the disease in patients. It rapidly became a major tool for assessing the long-term efficacy of enzyme replacement therapy (ERT) following the market release of alglucosidase-alfa.Methods:Almost 10 years after publication of the baseline characteristics of the 126 patients of the initial French Late-Onset Pompe Disease registry, we provide here an update of the clinical and biological features of patients included in this registry.Results:We describe 210 patients followed at 31 hospital-based French neuromuscular or metabolic centers. Median age at inclusion was 48.67 ± 14.91 years. The first symptom was progressive lower limb muscle weakness, either isolated (50%) or associated with respiratory symptoms (18%), at a median age of 38 ± 14.9 years. At inclusion, 64% of the patients were able to walk independently, and 14% needed a wheelchair. Positive associations were found between Motor Function Measure, Manual Motor Test, and 6-Minute-Walk Test results, and these parameters were inversely associated with the time taken to sit up from a lying position at inclusion.Seventy-two patients had been followed for at least 10 years in the registry. Thirty-three patients remained untreated, a median of 12 years after symptom onset. The standard ERT dose was administered for 177 patients.Discussion:This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier, thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability.The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease, and can be used to assess individual and global responses to future treatments.

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“…A study evaluating Pompe disease showed similar results, the interruption of therapy due to the pandemic worsened patients’ motor and respiratory function [ 3 ].…”

Section: Introductionmentioning

confidence: 88%

Symptoms of SARS-CoV-2 infection and vaccine status of sixty-seven adult patients affected by inherited metabolic diseases: a phone survey

Brodosi,

Stecchi,

Mita

et al. 2023

Orphanet J Rare Dis

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Background The Covid pandemic seems to have had several detrimental effects on managing patients affected by inherited metabolic diseases (IMD), although published data about the impact of COVID-19 on patients suffering from IMD are very scarce. The scope of our work was to evaluate adherence to the vaccination plan, the side effects experienced by our adult IMD patients, and the symptoms of the SARS-CoV-2 infection. Results Sixty-seven patients agreed to respond to a phone interview. The mean age was 36.5 (± 11.6 SD). Regarding the vaccination campaign, fifty-five patients (82%) joined it, of whom ten had received two doses and the remaining forty-five, three. Forty-two patients (76%) reported adverse events following vaccination, the most frequent being local reaction, fever, and asthenia, which lasted an average of two days and resolved without sequelae. Regarding SARS-CoV-2 infection, twenty-seven out of sixty-seven patients (40%) tested positive for the virus; seven of them were not vaccinated at the time of infection; on the other hand, twenty had already had at least two doses. Regarding the prevalence of long-Covid, as many as 12 patients (44%) reported symptoms that persisted after the nasopharyngeal swab tested negative and lasted an average of 81 (± 74 SD) days. There were no statistically significant differences in BMI of patients who contracted the infection and patients who did not (25.15 vs. 25.20, p = .861), between those who had adverse reactions to the vaccine and those who did not (24.40 vs. 25.75, p = .223), between those who had long-Covid and those who did not (25.9 vs. 27.7, p = .183). No relation was observed between metabolic inherited disease, SARS-CoV-2 infection symptoms and adverse vaccine reactions. Conclusions The data indicate that IMD patients adhered to the vaccination campaign comparably to the general Italian population. Adverse events to the vaccine were negligible. SARS-CoV-2 infection, which occurred in most cases after receiving at least two doses of the vaccine, did not cause serious symptoms and never required hospitalisation. A non-negligible share of patients suffered from long-Covid symptoms.

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

Cited by 8 publications

References 11 publications

The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease

The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease

Characteristics of Patients With Late-Onset Pompe Disease in France

Symptoms of SARS-CoV-2 infection and vaccine status of sixty-seven adult patients affected by inherited metabolic diseases: a phone survey

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