Guidelines to strengthen the Rare Diseases Network with increased access, early diagnosis, support, training, and innovation.
Published on:
25/02/2026
Objectives of the new strategies
The ASLs, the Hospital Centers for Rare Diseases, and other dedicated regional structures collaborate to ensure equitable and timely access to care and services. The main objectives are:
Expand Newborn Screening
Add new conditions to the list of diseases screened at birth;
Provide more appropriate, timely, and consistent genetic counseling across the region.
Develop the New Rare Diseases Registry
A new regional registry will replace the current SIMaRaL system, enabling more modern and integrated data collection.
Establish a Local Rare Disease Contact Point
Each area will have a dedicated reference point;
A Care Manager will be appointed as the main contact throughout the care journey.
Improve the Dedicated Regional Website
Update and enhance content to make it clear, accessible, and always up to date for both citizens and professionals.
Activate a Regional Helpline
A dedicated phone service to provide information and support to people with rare diseases and their families.
Promote On-Site Training
Launch specific training programs for healthcare professionals directly within care facilities.
Establish a Research Registry
A digital platform to collect and showcase all ongoing clinical trials and research projects.
The official document
The text of the Lazio Region that defines objectives, actions, and tools to strengthen the assistance network for people with rare diseases.
Strategic Lines
pdf | 351KB
11/06/2025