A groundbreaking European initiative is exploring how digital health technologies and artificial intelligence can transform care for patients with Lysosomal Storage Disorders, addressing longstanding challenges in diagnosis and treatment access for these rare genetic conditions.
The project, led by Professor Maurizio Scarpa as clinical and scientific chairman and Professor Alberta Spreafico, brings together expert healthcare professionals and patient associations to evaluate the integration of digital health innovations into LSD care pathways across Europe. The initiative specifically examines AI, telemedicine, digital medical devices, and other connected care technologies.
Addressing Critical Care Gaps
Lysosomal Storage Disorders represent a group of rare genetic diseases characterized by enzyme deficiencies, leading to the accumulation of toxic substances in cells. These conditions present significant challenges including delayed diagnoses, fragmented care pathways, and limited access to specialist care.
"LSDs pose significant challenges for timely diagnosis, effective care, and comprehensive patient management," according to the initiative's findings. The disorders create major hurdles for care delivery, with small patient groups and barriers to access compounding the difficulties.
Digital Health as a Transformative Solution
The research initiative positions digital health technologies as offering transformative opportunities to address unmet needs in LSD care. The technologies are designed to enable earlier intervention, enhance care coordination, and empower both patients and healthcare providers with innovative tools.
Professor Scarpa, who coordinates metabERN and directs the Regional Coordinator Centre for Rare Diseases at the University Hospital of Udine in Italy, brings extensive expertise in genetics, biotechnology, and pediatric rare disorders to the project. His background includes collaborations with biotech companies and coordination of European projects like INNERMED and MetabERN.
Strategic Framework for Implementation
The initiative emphasizes several critical components for successful digital health integration. These include the continued generation of high-quality clinical evidence, assessment of health economic impacts, multi-stakeholder engagement, policy innovation, and awareness and education efforts.
As health policies evolve to envision DHT integration into healthcare systems, the project stresses the essential need to assess their appropriateness and potential to optimize care pathways, clinical outcomes, and provide systemic value.
Professor Spreafico, serving as Senior Vice President of Health Innovation at EVERSANA and bringing over 10 years of digital health strategy experience, contributes global health innovation expertise to the initiative. Her background includes co-founding health innovation development programs worldwide and participating in United Nations expert meetings and intergovernmental programs.
Industry Collaboration and Support
The initiative receives support from Chiesi Global Rare Diseases, a business unit established to deliver innovative therapies and solutions for people affected by rare diseases. Alessandra Vignoli, Vice President of Regional Portfolio Strategy AIM at Chiesi, brings two decades of rare disease sector experience, having previously worked at Genzyme and Sanofi in rare disease leadership roles.
The collaboration represents a comprehensive approach to addressing the challenges faced by patients with LSDs, with the potential to serve as a template for improving rare disease clinical management more broadly. The project acknowledges that realizing this potential will require continued investment, collaboration, and innovation to make the vision of adequately served rare disease patients a reality.
