Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Eur J Neurol
; 30(9): 2828-2837, 2023 09.
Article
in En
| MEDLINE
| ID: mdl-37235686
ABSTRACT
BACKGROUND:
Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long-term outcomes.METHODS:
We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020.RESULTS:
Sixty-four patients were identified. At diagnosis (median age 4 months) all patients had cardiomyopathy and most had severe hypotonia (57 of 62 patients, 92%). ERT was initiated in 50 (78%) patients and stopped later due to being ineffective in 10 (21%). Thirty-seven (58%) patients died during follow-up, including all untreated and discontinued ERT patients, and 13 additional patients. Mortality was higher during the first 3 years of life and after the age of 12 years. Persistence of cardiomyopathy during follow-up and/or the presence of heart failure were highly associated with an increased risk of death. In contrast, cross-reactive immunologic material (CRIM)-negative status (n = 16, 26%) was unrelated to increased mortality, presumably because immunomodulation protocols prevent the emergence of high antibody titers to ERT. Besides survival, decreased ERT efficacy appeared after the age of 6 years, with a progressive decline in motor and pulmonary functions for most survivors.CONCLUSIONS:
This study reports the long-term follow-up of one of the largest cohorts of classical IOPD patients and demonstrates high long-term mortality and morbidity rates with a secondary decline in muscular and respiratory functions. This decreased efficacy seems to be multifactorial, highlighting the importance of developing new therapeutic approaches targeting various aspects of pathogenesis.Key words
Full text:
1
Database:
MEDLINE
Main subject:
Glycogen Storage Disease Type II
/
Cardiomyopathies
Type of study:
Guideline
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Child
/
Humans
/
Infant
Language:
En
Journal:
Eur J Neurol
Journal subject:
NEUROLOGIA
Year:
2023
Type:
Article
Affiliation country:
France