Leader: Antonio Pisani; Other collaborator: Daniela Sorriento
Fabry disease is a rare multisystemic lysosomal storage disorder characterized by a wide spectrum of clinical manifestations, including cardiovascular, renal, and neurological involvement, as well as chronic pain and reduced quality of life. In addition to supportive therapies aimed at managing symptoms resulting from organ damage, approved treatments for Fabry patients primarily focus on restoring enzymatic activity, which is the main, but not the only, pathogenic mechanism of the disease.
Within the framework of WP3 of Spoke 4, which focuses on the integration of digital technologies in the life-course approach for active and healthy aging, it is essential to explore the issue of frailty in Fabry disease patients. This population represents a new frontier for aging and multidimensional health management studies, especially in light of increased life expectancy due to novel therapies. The assessment of frailty in these patients allows for:
- Identifying risk factors and predictive biomarkers of functional decline.
- Enhancing the understanding of molecular mechanisms underlying Fabry disease, demonstrating that mitochondrial dysfunction represents an early molecular alteration in the disease pathogenesis. This will enable the identification of new potential biomarkers and molecular targets, useful in clinical practice for developing therapeutic approaches aimed at improving mitochondrial function.
- Outlining personalized management strategies that integrate pharmacological, nutritional, rehabilitative, and digital aspects. For example, evaluating the effectiveness of physical exercise in restoring mitochondrial function and the development of personalized adapted physical activity (APA) programs.
- Testing the application of secondary and tertiary prevention models based on innovative technologies.
- Providing new insights into the mechanisms involved in premature aging and other storage disorders.
This new task aligns with WP3 activities related to identifying multidimensional approaches for maintaining health in frail patients, exploring the underlying molecular mechanisms, and creating digital tools for integrated risk profiling, with related monitoring and personalized interventions. This task will commence in January 2025, supported by the involvement of new professionals joining as Age-It fellows.
Multidimensional Model for Frailty Assessment in Fabry Patients:
- Study and definition of specific biopsychosocial indicators and biomarkers of frailty in this population.
- Integration of digital tools for data collection and analysis (e.g., wearable devices, artificial intelligence for clinical data analysis).
Pilot Study Focused on Integrating Digital Technologies into Healthcare Services for Fabry Patients:
- Validation of specific technologies supporting risk stratification, health promotion, complication reduction, and remote monitoring.
- Definition of preventive strategies (adapted physical activity, personalized nutrition, polypharmacy management) and monitoring through appropriate biomarkers.
- Evaluation of digital technologies in the management of Fabry patients.
Scientific and Dissemination Outputs:
- Publications in peer-reviewed journals focusing on frailty and rare diseases.
- Consensus document on frailty management in Fabry patients, in line with WP3’s general activities.
- Development of educational materials for patients and caregivers.