Rome, Italy – The landscape of care for individuals living with rare diseases in Italy has a new leader. Maria Luisa Scattoni recently assumed the directorship of the Centro Nazionale Malattie Rare (National Center for Rare Diseases) at the Istituto Superiore di Sanità (Higher Institute of Health). This appointment arrives at a critical juncture, as Italy, like many nations, strives to improve access to diagnosis, treatment, and ongoing support for the millions affected by these often-overlooked conditions. Scattoni’s background in coordinating national surveillance networks and developing clinical guidelines positions her to champion a more equitable and comprehensive approach to rare disease management.
Rare diseases, defined as those affecting a small percentage of the population – generally less than 1 in 2,000 – present unique challenges. While individually rare, collectively they impact a significant number of people. In Italy, it’s estimated that over one million people are living with a rare disease, yet many face delays in diagnosis, limited treatment options, and difficulties accessing specialized care. Addressing these disparities requires a multifaceted strategy, encompassing research, clinical networks, and robust public policies. The focus on bridging the gap between basic research and effective healthcare policies is central to Scattoni’s vision.
Scattoni’s career has been marked by a commitment to improving care for vulnerable populations. Prior to her current role, she served as a research director at the Istituto Superiore di Sanità and coordinated the Osservatorio Nazionale Autismo (National Autism Observatory). Her experience leading clinical networks like NIDA and BABY@NET, focused on early detection of neurodevelopmental disorders, demonstrates her ability to build collaborative systems that translate research into practical applications. These networks emphasize surveillance and early diagnosis within pediatric practices, neuro-psychiatry units, and neonatal intensive care, highlighting the importance of early intervention.
The Multifaceted Approach to Rare Disease Care
The core of effective rare disease care lies in a holistic approach that extends beyond simply providing medication. Scattoni emphasizes the need for equitable access to early diagnosis, multidisciplinary care pathways, and a range of treatments – both pharmacological and non-pharmacological – across the entire national territory. Personalized care pathways, encompassing rehabilitation, psychological support, social assistance, and continuity of care between pediatric and adult services, are crucial. Many rare diseases are chronic and complex, profoundly impacting the quality of life for both patients and their families.
A key component of this approach is strengthening collaboration between healthcare systems, social services, schools, and employment agencies. This integration is essential to ensure that individuals with rare diseases have the support they need to participate fully in society. The role of national and European clinical networks, disease registries, and patient associations is paramount. These groups provide invaluable insights into real-world needs and challenges, informing policy decisions and driving improvements in care. The new leadership aims to transform data into concrete policies, guaranteeing equitable access to care and support throughout a patient’s life.
Addressing Access to Orphan Drugs and Financial Sustainability
Access to orphan drugs – medications developed to treat rare diseases – often presents a significant hurdle. These drugs are frequently expensive due to the small patient populations and high research and development costs. Finding a balance between fostering innovation and ensuring the financial sustainability of healthcare systems is a complex challenge. Scattoni believes the solution lies in rigorous scientific evaluations, systematic data collection on treatment effectiveness, and innovative reimbursement models. Disease registries play a vital role in this process, allowing for long-term monitoring of treatment outcomes.
However, it’s crucial to recognize that pharmacological interventions are not the sole answer for many rare diseases. Rehabilitation, assistive technologies, and social support can have a substantial impact on quality of life. A comprehensive approach that addresses the diverse needs of patients is essential. The European Medicines Agency (EMA) provides incentives for the development of orphan drugs, but ensuring affordability and accessibility remains a global concern. According to the EMA, orphan designation is granted to medicines intended for the diagnosis, prevention or treatment of life-threatening or chronically debilitating conditions affecting not more than 5 in 10,000 inhabitants in the Community.
The Implementation of Italy’s Unified Framework for Rare Diseases
Italy’s Legge 175/2021 (Law 175 of 2021), often referred to as the “Testo Unico sulle Malattie Rare” (Unified Text on Rare Diseases), represents a significant step forward in addressing the challenges faced by individuals with rare conditions. This law provides a comprehensive framework for tackling rare diseases within the country, recognizing their complexity and the need for a coordinated response. However, the full potential of this legislation hinges on the implementation of accompanying decrees, which remain outstanding as of February 2026.
The delay in enacting these decrees has raised concerns among patient advocacy groups and healthcare professionals. Complete implementation is essential to ensure uniform access to care and quality of assistance across all regions of Italy. The process requires collaboration between various institutional levels and the technical-scientific contributions of public research bodies, alongside ongoing dialogue with regional authorities and patient associations. The law aims to reduce territorial disparities and establish consistent standards of care, but its effectiveness is currently limited by the lack of full implementation. The Ministry of Health is currently working to finalize the necessary decrees, with a projected completion date in late 2026, according to recent reports from patient advocacy organizations.
Priorities for the New Director of the National Center for Rare Diseases
Taking the helm of the Centro Nazionale Malattie Rare, Scattoni has outlined several key priorities. These build upon the existing function of the Istituto Superiore di Sanità while addressing emerging challenges. Strengthening registries and information systems is paramount, as these tools are essential for understanding the impact of rare diseases and informing effective interventions. Supporting clinical networks, promoting early diagnosis, and fostering research – including international collaborations – are also central to her vision.
A particular emphasis will be placed on improving the quality of life for individuals with rare diseases throughout their lifespan, encompassing educational, social, and vocational aspects. The goal is to contribute to a system that not only treats the disease but also supports the individual in their entirety. This holistic approach reflects a growing recognition that rare disease care must address the complex needs of patients and their families, empowering them to live full and meaningful lives. Scattoni’s leadership promises a renewed focus on patient-centered care and a commitment to advancing the field of rare disease research and treatment in Italy.
Key Takeaways
- Comprehensive Care is Crucial: Effective rare disease management requires a holistic approach encompassing diagnosis, treatment, rehabilitation, and social support.
- Collaboration is Key: Strengthening collaboration between healthcare providers, researchers, patient organizations, and policymakers is essential.
- Implementation of Law 175/2021 is Pending: Full implementation of Italy’s unified framework for rare diseases is crucial for ensuring equitable access to care.
- Orphan Drug Access Remains a Challenge: Balancing innovation with affordability and accessibility of orphan drugs is a complex issue.
The Centro Nazionale Malattie Rare will continue to monitor the progress of implementing Law 175/2021, with updates expected to be released publicly in the fourth quarter of 2026. We encourage readers to share their experiences and perspectives on rare disease care in the comments below. Your insights are valuable as we continue to report on this critical area of public health.
Worth a look