Publications by authors named "F B Lagler"
Mucopolysaccharidosis (MPS) encompasses a group of genetic lysosomal storage disorders, linked to reduced life expectancy and a significant lack of effective treatment options. Immunomodulatory drugs could have the potential to be a relevant medical approach, as the accumulation of undegraded substances initiates an innate immune response, which leads to inflammation and clinical deterioration. However, immunomodulators are not licensed for this indication.
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- Children and adolescents with Pompe disease (PD) experience significant myopathy that requires intensive enzyme replacement therapy (ERT), but little is known about their views on the disease and treatment.
- A study involving interviews with 11 pediatric patients and 26 caregivers highlighted diverse perceptions of symptoms and their social impacts, showing that even mild limitations can be frustrating for patients.
- Participants generally felt relieved by the transition from hospital to home-based ERT, emphasizing improvements in daily life and emotional well-being, although their emotional responses varied widely.
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.
J Inherit Metab Dis
January 2025
Phenylketonuria is a rare inherited disorder that disrupts the metabolism of phenylalanine (Phe) to tyrosine by phenylalanine hydroxylase (PAH). Sapropterin dihydrochloride (Kuvan®) is approved for use in Europe to reduce blood Phe levels and improve Phe tolerance in sapropterin-responsive individuals. KAMPER (NCT01016392) is an observational, multinational registry assessing long-term safety and efficacy of sapropterin.
View Article and Find Full Text PDFIntroduction: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices for initial assessment, routine follow-up care, and integrated care coordination of patients with AM.
Methods: A modified Delphi method involving 3 rounds of online surveys was used.
Article Synopsis
- Genetic disorders create lifelong challenges for individuals and families, requiring ongoing medical support, particularly for children with Pompe disease (PD) who often struggle in physical activities.
- The study presents the PompeQoL 1.0 questionnaire, developed to assess both disease-specific functioning and health-related quality of life (HRQoL) through self-reports and parent-proxy reports, ensuring content validity through patient and parent feedback.
- With 52 selected items showing strong reliability and initial validation, the PompeQoL questionnaire is a significant tool for clinical and research use, although further testing and revisions are needed for broader application.