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

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.