Overview
- Uniamo, which brings together more than 200 patient associations, urges funding for drug development as well as continuous rehabilitative care and tailored assistive technologies, including digital communicators.
- Only about 5% of known rare diseases have specific treatments, with roughly 2 million patients in Italy and 300 million worldwide across thousands of conditions.
- Therapeutic development shows momentum: 16 orphan medicines received EMA approval in 2025, and about 7,721 R&D projects—over 30% of the global pipeline—target rare conditions.
- Access updates in Italy include recent AIFA reimbursement for Duvyzat for Duchenne muscular dystrophy and Carvykti for multiple myeloma, an unlimited EMA renewal for an ADA‑SCID gene therapy, and first‑in‑patient testing of a genetic patch for ADOA.
- Eighteen-year-old Benedetta Piola recounts lifelong care, fatigue and regional service gaps that often leave families paying out of pocket, reinforcing calls for social inclusion alongside medical support.