The impact of interrupting enzyme replacement therapy in late-onset Pompe disease
| العنوان: | The impact of interrupting enzyme replacement therapy in late-onset Pompe disease |
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| المؤلفون: | Federica Montagnese, Kristina Gutschmidt, Benedikt Schoser, Corinna Wirner, Stephan Wenninger, Krisztina Einvag |
| المصدر: | Journal of Neurology |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Weakness, Neurology, Late onset, Interruption of enzyme replacement therapy, Pulmonary function testing, 03 medical and health sciences, 0302 clinical medicine, Germany, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Prospective Studies, Adverse effect, Prospective cohort study, Pandemics, Original Communication, Clinical outcome, Glycogen Storage Disease Type II, SARS-CoV-2, business.industry, nutritional and metabolic diseases, Pompe disease, COVID-19, alpha-Glucosidases, Enzyme replacement therapy, Discontinuation, 030104 developmental biology, Cardiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Glycogen storage disease type 2 |
| الوصف: | Background Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to progressive weakness of locomotor and respiratory muscles. Enzyme replacement therapy (ERT), administered every second week, has been proven to slow down disease progression and stabilize pulmonary function. Due to the COVID-19 pandemic in Germany, ERT was interrupted at our centre for 29 days. As reports on ERT discontinuation in LOPD are rare, our study aimed to analyse the impact of ERT interruption on the change in clinical outcome. Methods We performed a prospective cohort study in 12 LOPD patients. Clinical assessments were performed after ERT interruption and after the next three consecutive infusions. We assessed motor function by muscle strength testing, a 6-minute-walk-test, pulmonary function tests, and adverse events. For statistical analysis, an estimated baseline was calculated based on the individual yearly decline. Results The mean time of ERT interruption was 49.42 days (SD ± 12.54). During ERT interruption, seven patients reported 14 adverse events and two of them were severe. Frequent symptoms were reduced muscle endurance/increased muscle fatigability and shortness of breath/worsening of breathing impairment. After ERT interruption, significant deterioration was found for MIP%pred (p = 0.026) and MRC%pred, as well as a trend to clinical deterioration in FVC%pred and the 6MWT%pred. Conclusion Interruption of ERT was associated with a deterioration in the core clinical outcome measures. Therefore, an interruption of ERT should be kept as short as possible. |
| تدمد: | 1432-1459 0340-5354 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4be6222a8885032f34c2ff4a51a7df3eTest https://doi.org/10.1007/s00415-021-10475-zTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4be6222a8885032f34c2ff4a51a7df3e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14321459 03405354 |
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