Italy Ends Healthcare Lottery: Mattarella Demands Equal Rare Disease Treatment Nationwide

Italy's President Sergio Mattarella has sharpened his focus on a constitutional promise falling short: equal access to rare disease treatment for every resident, regardless of where they live. His remarks, delivered on Rare Disease Day, translate into a blunt directive for the Italy health system—regional disparities in care delivery are no longer tolerable, and the constitutional right to health must apply uniformly from the Alps to Sicily.

Why This Matters

• Over 2 million Italians live with one of 8,000+ identified rare diseases, yet only 5% of those conditions have a specific drug therapy.

• Four new orphan drugs were approved for reimbursement by AIFA (Italy's medicines agency) in February 2026, including treatments for Duchenne muscular dystrophy and multiple myeloma.

• Regional inequality persists: patients in the South face a scarcity of specialized centers, forcing medical travel well above the national average.

• Diagnostic delays remain crippling—some patients wait 4 to 7 years for a correct diagnosis, undermining early intervention.

The Constitutional Gap Mattarella Won't Ignore

Mattarella's statement cuts to the practical reality: Italy's Servizio Sanitario Nazionale guarantees health care on paper, but execution varies wildly by region. His message lands as the Piano Nazionale Malattie Rare (PNMR) 2023-2026, backed by €50M from the national health fund, struggles with delayed regional implementation and uneven distribution of specialized centers.

The Italy Health Ministry, Istituto Superiore di Sanità, and regional authorities are now under explicit pressure to harmonize access. The President's reference to "territorial homogeneity" signals that the government can no longer deflect responsibility to regional administrations—equal means equal, everywhere.

What This Means for Patients and Families

For families navigating rare disease care, Mattarella's intervention translates into three concrete demands likely to shape policy in the coming months:

Pharmaceutical Access: Italy ranks among the top EU nations for orphan drug availability—94.2% of EMA-approved orphan medicines are accessible here. Yet the average wait from EMA approval to patient bedside hovers near 500 days, significantly longer than Germany. The AIFA has streamlined its approval process, merging two committees into one to cut delays, but regional formularies still lag. A 2021 amendment mandates inclusion in regional drug lists within 2 months, but enforcement remains inconsistent.

Rehabilitation and Assistive Devices: Beyond pharmaceuticals, most rare disease patients rely on physiotherapy, dietary intervention, psychological support, and technological aids. These services are not uniformly covered or codified in the Livelli Essenziali di Assistenza (LEA)—Italy's essential care standards. Southern regions, in particular, show gaps in both availability and reimbursement, forcing families to pay out-of-pocket or relocate temporarily.

Diagnostic Speed and Genomic Screening: The push for expanded neonatal screening and genome sequencing aims to shorten the diagnostic odyssey that currently stretches beyond 4 years for many patients. Advanced diagnostic tests—particularly "-omic" and biochemical assays—remain outside LEA coverage, leaving patients to shoulder costs that can reach thousands of euros.

The Four Drugs Approved This February

AIFA announced reimbursement approval for four orphan medicines in February 2026, marking Italy as one of the first EU member states to provide access post-EMA authorization:

• Givinostat (Duvyzat) for ambulatory Duchenne muscular dystrophy patients aged 6+, used in combination with corticosteroids. EMA authorized it in June 2025; Italy's approval follows within 8 months.

• Ciltacabtagene autoleucel (Carvykti), Italy's first reimbursed CAR-T therapy for relapsed/refractory multiple myeloma in adults after at least one prior line of treatment and lenalidomide resistance.

• Polyhexanide (Akantior), Europe's first authorized treatment for Acanthamoeba keratitis, indicated for adults and adolescents 12+.

• Palopegteriparatide (Yorvipath), a parathyroid hormone replacement for adults with chronic hypoparathyroidism inadequately controlled by or intolerant to conventional therapy.

These approvals reinforce Italy's positioning in orphan drug access, but the real test remains regional rollout—whether a patient in Palermo can access the same therapy as quickly as one in Milan.

The Network Problem: Where the Specialists Are (and Aren't)

Italy's rare disease care network includes Centri di Riferimento (reference centers) and participation in European Reference Networks (ERNs). The distribution is heavily skewed north: the South shows an almost complete absence of ERN-affiliated centers. This geographic imbalance drives medical mobility rates for rare disease patients well above the national average, adding travel costs, family disruption, and delays to an already burdened population.

The Federazione Italiana Aziende Sanitarie e Ospedaliere (Fiaso) has called for stronger hospital-territory integration and reinforced professional networks to close the gap. Yet without centralized funding earmarked for southern expansion, the disparity is likely to persist.

Research and the 95% Without a Cure

Mattarella emphasized that only 5% of known rare diseases have a specific pharmacological therapy. For the remaining 95%, care relies on symptomatic management, rehabilitation, dietary plans, assistive technology, and psychosocial support. This reality places enormous weight on non-pharmaceutical services, which are precisely the areas showing the steepest regional inequality.

Global R&D has shifted attention to rare diseases—over 30% of pharmaceutical research worldwide now targets these conditions. In 2025, the European Medicines Agency (EMA) authorized 16 orphan drugs. Italy's challenge is not discovery but delivery: transforming regulatory approval into bedside availability within uniform timelines.

Patient Advocacy and the #UNIAMOleforze Campaign

UNIAMO – Federazione Italiana Malattie Rare launched the #UNIAMOleforze campaign around Rare Disease Day, pressing for transformation of the abstract right to care into an enforceable, concrete entitlement with clear timelines and uniform access. The federation points to gaps in LEA coverage, delays in assistive device prescriptions, and the absence of uniform national standards for rehabilitative care as priority action areas.

Mattarella's public acknowledgment of patient associations signals government recognition that advocacy groups are no longer peripheral—they are shaping policy, monitoring implementation, and holding institutions accountable.

What Comes Next: Legislative and Funding Pressure

Italy remains the only European nation with dedicated rare disease legislation, but legislation without execution is symbolic. The PNMR 2023-2026 provides the framework; the missing piece is timely regional funding disbursement and enforceable standards for center accreditation and service delivery.

Observers expect the Italy Health Ministry to issue updated guidance on LEA expansion to include advanced diagnostics and underrepresented therapeutic professions. Pressure is also mounting for mandatory regional compliance timelines on orphan drug formulary updates, turning the current 2-month guideline into a binding deadline with penalties for non-compliance.

Mattarella's message is unambiguous: the constitutional guarantee of health is not a regional option—it is a national obligation. For the 2 million Italians with rare diseases, that principle must now translate into prescriptions filled, therapies delivered, and diagnoses made without a postcode lottery.