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Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study.

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Title: Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study.
Authors: Chitimus, Diana Maria (AUTHOR), Tard, Céline (AUTHOR), Fournier, Maxime (AUTHOR), Bouhour, Françoise (AUTHOR), Béhin, Anthony (AUTHOR), Salort‐Campana, Emmanuelle (AUTHOR), Lagrange, Emmeline (AUTHOR), Kaminsky, Anne‐Laure (AUTHOR), Magot, Armelle (AUTHOR), Beltran, Stéphane (AUTHOR), Noury, Jean‐Baptiste (AUTHOR), Magy, Laurent (AUTHOR), Solé, Guilhem (AUTHOR), Renard, Dimitri (AUTHOR), Spinazzi, Marco (AUTHOR), Demurger, Florence (AUTHOR), Cintas, Pascal (AUTHOR), Nadaj‐Pakleza, Aleksandra (AUTHOR), Deibener‐Kaminsky, Joelle (AUTHOR), Bassez, Guillaume (AUTHOR)
Source: European Journal of Neurology. Oct2025, Vol. 32 Issue 10, p1-11. 11p.
Subjects: Mortality, Causes of death, Glycogen storage disease type II, Retrospective studies, Respiratory insufficiency, Medical registry personnel, Comorbidity, Carcinoma
Abstract: Background and Objectives: Mortality in Late‐Onset Pompe Disease (LOPD) has been associated with the rapid progression of respiratory and motor impairment. However, an in‐depth approach to the exact causes of death in these patients is still lacking. Methods: In this retrospective cohort study, we analyzed the cause of death and the comorbidities of all deceased patients from the French Late‐Onset Pompe Disease registry. Results: By the time of the last extraction, 60 patients diagnosed with LOPD and monitored were registered as deceased in the French national registry, out of a total of 260 patients included. The median age of death was 70.5 years, while the median age of diagnosis was 58 years. The causes of death were divided into disease‐related, accounting for 46.6% of deaths, and non‐disease‐related, comprising 28.3% of total deaths. Fifteen patients (25%) died of an unknown cause. The most frequent etiology of disease‐related death was respiratory failure (n = 14), while for the non‐disease‐related group, malignant neoplasm was the most common (n = 8). Patients in the non‐disease‐related death group had significantly higher forced vital capacity (FVC) values compared to those in the disease‐related death group (54.7% vs. 38%). Treatment‐wise, the median period elapsed from diagnosis to ERT introduction was higher in the disease‐related group. Discussion: This is the first study to focus on the specific causes of death of LOPD patients. The majority of the LOPD deaths in the French registry were attributed to respiratory failure and malignant neoplasms. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study.
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  Data: <searchLink fieldCode="AR" term="%22Chitimus%2C+Diana+Maria%22">Chitimus, Diana Maria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tard%2C+Céline%22">Tard, Céline</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fournier%2C+Maxime%22">Fournier, Maxime</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bouhour%2C+Françoise%22">Bouhour, Françoise</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Béhin%2C+Anthony%22">Béhin, Anthony</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Salort‐Campana%2C+Emmanuelle%22">Salort‐Campana, Emmanuelle</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lagrange%2C+Emmeline%22">Lagrange, Emmeline</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kaminsky%2C+Anne‐Laure%22">Kaminsky, Anne‐Laure</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Magot%2C+Armelle%22">Magot, Armelle</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Beltran%2C+Stéphane%22">Beltran, Stéphane</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Noury%2C+Jean‐Baptiste%22">Noury, Jean‐Baptiste</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Magy%2C+Laurent%22">Magy, Laurent</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Solé%2C+Guilhem%22">Solé, Guilhem</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Renard%2C+Dimitri%22">Renard, Dimitri</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Spinazzi%2C+Marco%22">Spinazzi, Marco</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Demurger%2C+Florence%22">Demurger, Florence</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cintas%2C+Pascal%22">Cintas, Pascal</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nadaj‐Pakleza%2C+Aleksandra%22">Nadaj‐Pakleza, Aleksandra</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Deibener‐Kaminsky%2C+Joelle%22">Deibener‐Kaminsky, Joelle</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bassez%2C+Guillaume%22">Bassez, Guillaume</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Oct2025, Vol. 32 Issue 10, p1-11. 11p.
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  Data: <searchLink fieldCode="DE" term="%22Mortality%22">Mortality</searchLink><br /><searchLink fieldCode="DE" term="%22Causes+of+death%22">Causes of death</searchLink><br /><searchLink fieldCode="DE" term="%22Glycogen+storage+disease+type+II%22">Glycogen storage disease type II</searchLink><br /><searchLink fieldCode="DE" term="%22Retrospective+studies%22">Retrospective studies</searchLink><br /><searchLink fieldCode="DE" term="%22Respiratory+insufficiency%22">Respiratory insufficiency</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+registry+personnel%22">Medical registry personnel</searchLink><br /><searchLink fieldCode="DE" term="%22Comorbidity%22">Comorbidity</searchLink><br /><searchLink fieldCode="DE" term="%22Carcinoma%22">Carcinoma</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background and Objectives: Mortality in Late‐Onset Pompe Disease (LOPD) has been associated with the rapid progression of respiratory and motor impairment. However, an in‐depth approach to the exact causes of death in these patients is still lacking. Methods: In this retrospective cohort study, we analyzed the cause of death and the comorbidities of all deceased patients from the French Late‐Onset Pompe Disease registry. Results: By the time of the last extraction, 60 patients diagnosed with LOPD and monitored were registered as deceased in the French national registry, out of a total of 260 patients included. The median age of death was 70.5 years, while the median age of diagnosis was 58 years. The causes of death were divided into disease‐related, accounting for 46.6% of deaths, and non‐disease‐related, comprising 28.3% of total deaths. Fifteen patients (25%) died of an unknown cause. The most frequent etiology of disease‐related death was respiratory failure (n = 14), while for the non‐disease‐related group, malignant neoplasm was the most common (n = 8). Patients in the non‐disease‐related death group had significantly higher forced vital capacity (FVC) values compared to those in the disease‐related death group (54.7% vs. 38%). Treatment‐wise, the median period elapsed from diagnosis to ERT introduction was higher in the disease‐related group. Discussion: This is the first study to focus on the specific causes of death of LOPD patients. The majority of the LOPD deaths in the French registry were attributed to respiratory failure and malignant neoplasms. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1111/ene.70394
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