AISNAF – Italian Association for Neurodegeneration with brain iron accumulation syndromes
From neglect to the development of therapeutic strategies for an orphan disease
The AISNAF story begins in 2005 with the encounter of the family of a little girl suffering from a neurodegeneration with brain iron accumulation syndrome (NBIA) and Francesca Sofia who is today leading ScienceCompass and at that time was in charge of the patients’ liaise project “FiloDiretto con i Pazienti” at the Italian Telethon Foundation.
In those years the level of knowledge on the disease was mostly limited to sporadic clinical descriptions of the very few cases known and research of the pathological mechanisms towards the development of therapies was basically missing.
That first contact led the way to an outreach project to gather the other Italian families touched by NBIA and the creation of a patients’ association with a mission strongly driven to the promotion of therapy development.
The strategy designed for AISNAF was therefore aimed at triggering in the scientific community an interest for a disease which up to that moment had been neglected by science.
To this end, an array of actions were taken.
Calls to action to scientists were launched at major gathering events for the scientific community in the rare disease field.
AISNAF pursued a dialogue with researchers with a strong productivity record on iron metabolism; this paved the way to a seeding initiative supporting the first projects activated thanks to the engagement of a number of research teams.
Within a few years a scientific community focused on studying NBIA was growing in Italy.
The data produced through the science triggered by AISNAF allowed these research teams to access funding from major Italian and European agencies.
In recent years the association contributed to the sustainability of research through joint funding actions, in collaboration with the patients’ associations at the international level, and through bridge funding initiatives to provide projects’ continuity across the expiration periods of major grants.