Advancing Rare Disease Care: The National Rare Disease Plan 2023-2026

Written by Andrea Bernardini, Associate Consultant & Marco Sancandi, Analyst

Contacts: abernardini@partners4access; msancandi@partners4access

In a significant step forward for healthcare in Italy, the National Rare Disease Plan for 2023-2026 has been approved and ratified at the State-Regions Conference. This plan fills a seven-year gap and establishes a framework of precise interventions to provide tangible support to individuals with rare diseases and their families. By focusing on prevention, diagnosis, treatment, rehabilitation, and research, this plan aims to improve the quality of care for patients while ensuring greater uniformity in health protection.

Below is a table summarising the primary areas of focus detailed in the plan.

The plan offers opportunities for manufacturers that have Italy under their radar, and we at P4A have thought of potential actions that can be part of a fruitful long-term strategy.

Primary Prevention:

1. Collaborate with healthcare authorities to support and participate in awareness campaigns and educational initiatives

2. Engage in partnerships with Italian research institutions and public health organizations to study and develop innovative prevention strategies specific to rare diseases prevalent in Italy.

These actions aim at building a trustworthy relationship between Italian authorities and pharmaceutical manufacturers, fostering a constructive background to support future market access activity.


1. Invest in the development of accurate and reliable diagnostic tests for rare diseases, considering the specific needs and challenges of the Italian healthcare system.

2. Collaborate with Italian healthcare providers and diagnostic centers to streamline the diagnostic process, ensuring timely access to diagnostic services for patients with rare diseases.

3. Establish partnerships with Italian telemedicine providers to facilitate remote diagnostic consultations, particularly for patients in underserved regions.

These actions can increase the target patient pool and reduce the time to treatment for patients in highly heterogeneous regional submarkets.

Pharmacological and Non-Pharmacological Treatments:

1. Conduct health economic evaluations of rare disease treatments to demonstrate their value and support optimal pricing and reimbursement decisions.

2. Collaborate with Italian healthcare authorities, payers, and regulatory agencies to ensure a clear understanding of the clinical and economic benefits of rare disease treatments.

3. Engage in dialogue with Italian patient organizations to gather insights into the specific needs and challenges faced by patients with rare diseases in accessing treatments and incorporate this feedback into market access strategies.

Creating a comprehensive dossier will expedite and enhance the chances of a successful reimbursement at an acceptable price point for both manufacturers and payers.

Assistance Pathways:

1. Collaborate with Italian healthcare providers and patient organizations to develop comprehensive care pathways that optimize patient outcomes.

2. Demonstrate the value of integrated care models and home-based care services to encourage reimbursement and support from Italian healthcare authorities.

3. Provide training and education materials to Italian healthcare professionals to enhance their understanding of rare diseases and ensure high-quality care delivery.

These are especially relevant as patient-centred strategies are increasingly well-received by Italian payers as demonstrated by the wider implementation of service-based agreements.


1. Collaborate with Italian academic institutions and professional organizations to support the training and education of healthcare providers specialized in rare diseases.

2. Establish partnerships with Italian centers of excellence to offer fellowships and research opportunities in rare disease management and treatment.

3. Contribute to the development and implementation of rare disease-specific educational programs and conferences in Italy to foster knowledge-sharing and expertise development.


1. Develop and disseminate accurate and up-to-date information about rare diseases, including treatment options, clinical evidence, and patient support resources, tailored to the Italian healthcare system.

2. Collaborate with Italian healthcare authorities to ensure the inclusion of rare disease information in national healthcare databases and information systems.

3. Engage with Italian patient organizations to co-create educational materials and raise awareness among patients, caregivers, and healthcare professionals.


1. Invest in research and development activities that align with the specific needs of the Italian rare disease population, considering the prevalence and burden of different conditions.

2. Collaborate with Italian research institutions and academic centers to leverage local expertise and foster innovation in rare disease research.

3. Engage in partnerships with Italian patient organizations and healthcare authorities to prioritize research areas and ensure the translation of research findings into improved patient outcomes.

Increasing awareness and partnerships levels among public and healthcare professionals will help increase the rate of diagnosis (and so the patient pool) also in regions where infrastructure and expertise are lacking.

Registers and Monitoring of the National Rare Disease Network:

1. Collaborate with Italian healthcare authorities to establish and maintain national and regional rare disease registries, leveraging real-world data to demonstrate treatment effectiveness and support market access activities.

2. Contribute to the development of interoperable electronic health records and data sharing mechanisms to facilitate comprehensive monitoring of rare diseases and their outcomes.

3. Engage in partnerships with Italian research institutions to support the implementation of monitoring and evaluation systems that assess the impact of rare disease interventions and inform future research and development efforts.

Enabling the advance of the network will provide a supportive environment for RWE gathering which is becoming increasingly relevant when discussing price and access for ODs.

The approval and ratification of the National Rare Disease Plan for 2023-2026 mark a significant milestone in Italy’s commitment to addressing the needs of individuals with rare diseases and their families. To improve healthcare for rare diseases, this plan sets strategic objectives that include primary prevention, diagnosis, treatment, assistance pathways, training, information, registration and monitoring, and research.

Through the implementation of these strategies and use of the recommended tools, Italy hopes to improve the lives of those with rare diseases, ensure equitable access to quality care, and foster collaboration among stakeholders. To always provide the latest recommendations, P4A will keep track of the ongoing situation in the Italian market to ensure manufacturers take advantage of the opportunities that this legislation brings.


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