The pilot project on rare diseases in Abruzzo

Abruzzo is the Italian pilot region for the experimentation of a new diagnostic-therapeutic pathway on rare diseases. The project was presented by the health planning advisor Silvio Paolucci and Antonio Di Muzio, head of the Regional Center of Neuromuscular Diseases of the Chieti Polyclinic

It will concern, in the initial phase, family amyloidosis, a serious hereditary pathology. which affects the nervous system.

"Our main goal," explains Paolucci, "is to provide the patient with precise benchmarks that, in the event of a rare pathology diagnosis, represent an important signal in a moment of understandable disorientation.For the first time, this will be our region of Experiment with a protocol, which can then be replicated for other diseases, not only here, but also in other Italian regions.This is a sign that after years of control, Abruzzo is once again able to make innovative choices in the field of health. "

The project is at the heart of the figure of general practitioners, who will be involved in programs training and awareness on the main symptoms to direct the patient to the referral center, where a multidisciplinary team will be available to study, diagnose and identify the therapeutic pathway. more appropriate, safeguarding the citizen's quality of life and avoiding the use of inappropriate, invasive and even unnecessarily expensive examinations and treatments for the health system.

The project was carried out in collaboration with the badociations, the University of Chieti-Pescara, the hospitals of Chieti and Pescara, the pharmaceutical company Alnylam, while the financial aspects were badyzed J & # 39; have and certified by Kpmg. Currently, in Abruzzo, there are about 5,000 patients with rare diseases.