Rare Disease Community Calls for Equitable Access and Timely Care in Italy

Rare Disease Community Calls for Equitable Access and Timely Care in Italy

The Inherited Retinal Disease (IRD) community, like all rare disease communities, relies heavily on equitable access to medications, advanced treatments, and comprehensive support. Recent developments from Italy highlight the ongoing advocacy efforts to ensure that patients receive the care they need, regardless of their location or socioeconomic status. This is particularly relevant for IRD patients, where timely diagnosis and access to specialized therapies can significantly impact disease progression and quality of life.

At the closing event of the #UNIAMOleforze 2026 campaign in Rome, Uniamo – the Italian Federation of Rare Diseases – presented a series of crucial demands to institutions. These requests focused on reducing regional disparities in access to medications, rehabilitation treatments, and essential aids. The campaign also emphasized the need for a timely update of the expanded newborn screening (ENS) and the full implementation of Law 175/2021.

The #UNIAMOleforze 2026 campaign, which culminated in this event, was dedicated to ensuring equal, timely, and uniform access to therapies and treatments, including non-pharmacological interventions. This initiative marked the conclusion of a month-long series of discussions, meetings, and insights involving institutions, scientific societies, industry, and patient groups, gathering concerns and concrete proposals to improve care for the over 2 million people with rare diseases in Italy. The campaign launched on January 29, 2026, with an event at the Ministry of Health, focusing on the theme of "Equitable, timely, and consistent access to non-pharmacological therapies and treatments".

For patients and families living with rare diseases, these demands are critical. Many rare diseases, including various IRDs, often lack specific pharmacological treatments, making rehabilitation, speech therapy, psychomotor skills training, psychological support, and medical devices vital for improving quality of life. The campaign underscored that access to these essential services should be continuous and uniform across the country, as mandated by Law 175/2021. Furthermore, the call for updated newborn screening is particularly important for early diagnosis, which can lead to earlier care and better support for conditions where early intervention is key.

This concerted effort by Uniamo and its partners signifies a continued commitment to addressing the systemic challenges faced by the rare disease community. The focus on reducing regional inequalities and ensuring comprehensive access to both pharmacological and non-pharmacological treatments sets an important precedent for patient advocacy, aiming to create a healthcare system that truly prioritizes the needs of individuals with rare conditions.