Financing Rare Diseases: Not 'Whether to Pay' but 'How to Pay'

The Rare Diseases and Rare Lives Summit 2026 report lays out the field's financial reality with a stark example: one reviewed file carried a single-dose price of USD 4.4 million. With annually repeated doses, these magnitudes become a burden even states and the strongest health systems cannot absorb. With 5-8% of the world's population — and 5-6.4 million people in Türkiye — affected, the financing question determines the system's fate. This article examines the report's financing findings, international payment architectures and the company's preparation strategy.

The Summit's priority survey: coordination and financing

Participants named inter-institutional coordination (34%) as the area most in need of development, followed by financing and reimbursement models (25%); early diagnosis/screening 21%, treatment access 16%, and data/digital infrastructure just 4%. The distribution carries two messages. First: participants see the problem primarily as one of governance rather than technical, medical or financial impossibility — the absence of a "top-management and alignment mechanism" connecting every stakeholder end to end. Second: financing ranks second, but in the report's language this reflects not unimportance but a reluctance to accept it as an ethical "obstacle", alongside the opening of alternative solution mechanisms. For companies the consequence: payment-model proposals are the most concrete contribution capable of changing how institutions perceive financing.

The question gap with Europe: not "whether to pay" but "how to pay"

One of the workshop report's sharpest comparisons: in Italy, France and the United Kingdom, the debate is built not on "whether to pay?" but on "how to pay?" Three institutional capabilities lie behind that gap. In Italy, AIFA has long managed payment uncertainty through registry-integrated monitored agreements and payback/loss-fund mechanisms. In France, the CEPS sets prices provisionally under early-access programmes and finalises them with real-world data. In England, NICE operates "pay while data accrue" through managed access agreements for highly specialised technologies. Türkiye's call, per the report, is equally clear: data gaps should not be used as grounds to halt reimbursement, and the country should move to a solution-oriented payment vision that manages uncertainty.

The humanitarian and economic cost of layered processes

The report records the long and multi-layered structure of the current reimbursement system: due to delays in licensing and reimbursement stages, the disease progresses, and in some cases even where funding is secured, the patient has passed the stage of clinical benefit from treatment. This is a humanitarian and an economic loss alike: the money paid cannot be recovered as clinical outcome. The lesson for companies is that accelerating the process is a moral imperative and a financial reality at once — every month spent preparing the file must bring the product to the payer's table before its efficacy window closes.

The prevalence definition is a financial parameter

The workshop's legislative session points to a critical fact: the commonly accepted 1/2000 threshold has no place in Turkish legislation; adopted under the Action Plan, its reflection in binding regulation remains unclear. Yet the threshold is not mere statistics — it is a financial parameter determining the size and scope of the national fund: until the definition is fixed, neither which diseases enter the pool nor budget planning can be established. The report's second warning concerns equity: per Orphanet, only 10-15% of ~6,500 defined diseases fall within 1/2,000-1/10,000; the remaining 85% are ultra-rare. A narrow definition risks excluding this majority; using the prevalence threshold as a "cost-reduction tool" must be assessed carefully from both fiscal-sustainability and patient-rights perspectives. For companies: prepare for the ultra-rare distinction today — the measurement, definition and access arguments of the 85% belong in files now.

Fund-based solutions: the report's expectation

The report assesses that fund-based solutions can provide predictable budget management in ultra-rare, high-cost cases; pool approaches are expected to produce sustainability in pictures like sickle-cell anaemia, where per-patient costs reach millions of dollars. A striking comparison appears in the report: setting the export revenue of hazelnuts — earned through the labour of millions — against the high-cost treatment of a very small number of patients is a folkloric expression of the tension between the scale of public resources and the size of treatment costs. The national-fund debate moves this tension into a structural frame: which sources (budget, solidarity mechanisms, company contributions) pool under which rules?

Risk-sharing instruments: the company's payment-model palette

The financial sustainability of the ultra-rare field is built with the instruments of alternative reimbursement models. The palette: discount-based agreements (fast set-up, limited risk sharing), price-volume thresholds (budget predictability), time-limited payment and payment-stop mechanisms (response-linked payment; refund/free-completion options), outcome-based agreements (endpoint-linked payment; requiring data infrastructure) and pool/fund models (disease-group budgets). File strategy should match this palette to the product's evidence maturity and data infrastructure: a product with a registry and a measurable endpoint addresses the payer's uncertainty directly with an outcomes-based proposal.

Ethical responsibility and oversight: the company's line

The Summit report contains a finding that is not against companies but in favour of company responsibility: the stance of pharmaceutical companies is "not merely a commercial preference but an ethical responsibility". A company saying "the doctor prescribed it, the rest is not my concern" is unacceptable; firms must operate an effective compliance mechanism on whether the medicine is requested for an indication within approved criteria or for a patient group outside them. This finding is the trust foundation of every payment model in rare diseases: when the payer can manage not only payment risk but also use-appropriateness together with the company, it approaches the "how to pay" question with courage. A usage-compliance function should be established in every company with a rare-disease portfolio.

The company's preparation plan: five steps

1. Evidence lowers the price: make the value case sustainable with real-world data, registries and long-term outcomes; structure data from early-access programmes into the file.
2. Propose payment mechanisms: offer not just a price in the file but instalment, refund and threshold models that manage the payer's budget risk — you answer the "how to pay" question.
3. Prepare for the ultra-rare distinction: develop the measurement, definition and access arguments of the 85% today; join prevalence-threshold debates with data.
4. Establish usage compliance: operate an internal mechanism that detects, records and reports requests outside criteria.
5. Be a stakeholder in coordination: join the coordination architecture among reference centres, NGOs and the Institution as a data provider; visibility produces power in access negotiations.

International fund and payment models: a comparative view

International practice in financing ultra-rare diseases splits into four models. Special allocation within budget: earmarked mechanisms for rare-disease therapies (Italy's drug-fund structure with "fondo perduto" and payback; France's provisional pricing under early-access coverage). Assessed access: England's HST programme and managed access — the "pay while data accrue, decide permanently when evidence matures" cycle. Sector-wide agreements: budget predictability through revenue caps and payback (the UK PPRS/VPS tradition). Not-for-profit/multi-stakeholder funds: disease-based pools and contribution mechanisms. Türkiye's fastest applicable road map: the existing alternative reimbursement framework (2016/2023) can be operated with the English-style "assessed access" logic — early payment + registry + finalisation — a workable architecture without waiting for new legislation. The national-fund debate is the layer to be built on top of that architecture in the medium term.

Measurement problems in outcome-based agreements — and answers

The measurement layer is outcome-based design's most fragile link. Core problems and answers: Problem 1 — endpoint definition: "response" lives in clinical grey zones (partial response, stable disease). Answer: the protocol defining response signed as an annex to the agreement, referencing international consensus criteria where available. Problem 2 — data-source reliability: which record governs? Answer: independent registry infrastructure or institution-company data matching with reconciliation procedures and dual verification rights. Problem 3 — follow-up losses: lost-to-follow-up patients distort measurement. Answer: pricing loss scenarios upfront (e.g. a standard rate for undocumented patients). Problem 4 — timing: assessment may fall before responses mature. Answer: payment crystallising step by step with interim analyses. Problem 5 — operational load: measurement is continuous work for both parties. Answer: building the measurement architecture together before the deal and automating processes. These five problems and answers are the one-sentence response to "how to pay": negotiate what is measurable.

Public sentiment, ethics and narrative: the invisible layer of the financing debate

Financing rare diseases is not merely a technical negotiation; it is a field shaped by public sentiment and ethical narrative. One of the Summit report's most striking findings is that the financial burden is not wished to be accepted "as an ethical/conscientious obstacle" — proof that even the language of the problem is managed: not "too expensive" but "a value that must be paid and managed". Companies' constructive role has three levels. (1) Transparency: explaining the logic of payment models (risk sharing, access guarantee) in intelligible language. (2) Ethical stance: being the company that polices out-of-criteria requests, as the report stresses — trust is the currency of negotiation. (3) A common goal language: converging with NGOs and the institution on the shared goal of "early diagnosis + sustainable payment". The Summit process itself — the federation setting the table, ministries sitting down — is the product of this common language and proof of the dialogue door open to companies.

An implementation road map: a 12-month plan for payer and company

The road map merges the reports' recommendations with companies' preparation steps on one calendar; parallel preparation on both sides is the institutional answer to "how to pay".

Frequently asked questions: rare-disease financing

• Under what status are rare-disease medicines covered in Türkiye? Disease-based SUT articles (the SMA example), annex lists and the alternative reimbursement framework are used together; the route map varies by product.
• When will a national fund be established? The reports remain at recommendation level; when established, the prevalence definition will determine the fund's size.
• Is the USD 4.4 million example representative? It is an extreme case quoted in the report; yet single-dose prices in the millions are a global reality of gene therapy.
• Have outcome-based agreements been tried in Türkiye? The alternative-model framework is open to outcome-based proposals; prevalence is limited, the direction clear — data infrastructure is decisive.
• Should a company run a free-supply programme? In small, urgent populations the ethical and data value is high; in broad populations it is unsustainable without a payment construction.
• How does the company police out-of-criteria use? Through a request-comparison-verification chain: matching prescription rationale against protocol and recording deviations.
• Can NGO collaboration be used in negotiation? Yes; the patient-need map and diagnosis-time data form the public-value layer of the payment proposal — transparently.
• Does a price cut create reference risk? A list cut does; net-price (rebate) and confidential model mechanisms are designed against this risk.

A scenario: the anatomy of an outcome-based agreement

A hypothetical but realistic example: an ultra-rare disease with ~80 patients in the country and an annual per-patient therapy cost of TRY 3 million. The payer finds the budget impact (~TRY 240 million/year) high; outright rejection would generate ethical and legal objection. Agreement design: full payment for the first 6 months; at the month-6 response assessment defined by protocol, continuation for responders, 50% refund for non-responders; at month 12, a second assessment and free completion for patients without durable response; all patients entered into a joint payer-company registry. The payer's gain: the budget impact capped even in the worst scenario. The company's gain: access guarantee and price integrity. The risk: registry operations — 80 patients followed for 12 months on defined forms, mutually verifiable. This scenario is the concrete answer to "how to pay" and works only with the trio of an evidence base, measurement architecture and contract clauses.

Step by step: assembling the payment-model proposal package

The proposal package for a rare-disease product has five parts, prepared in order. Part 1 — Executive summary (2 pages): the product's clinical value, patient count, a one-paragraph definition of the proposed model and the summary of both sides' gains. The decision-maker starts reading here; a weak summary means the package goes unread. Part 2 — Evidence section: clinical effectiveness, local patient data, unmet need and the cost comparison (early treatment vs progressed disease). Part 3 — Model mechanics: the deal's technical operation — thresholds, refund rules, measurement times, sample calculation tables; every parameter's rationale. Part 4 — Simulations: payer budget impact and company net revenue across patient-count and response-rate scenarios, worst case included. Part 5 — Contract draft and operations plan: legal frame, data/measurement protocol, reconciliation calendar and responsibility matrix. Preparation takes 8-12 weeks and must mature in parallel with the file's evidence; a model proposal without evidence reads as an "excuse" with the payer — with evidence, it reads as partnership.

The registry-measurement architecture: the deal's operating layer

Realising the payment model depends on building the registry-measurement architecture; it has four layers. Layer 1 — Data model: the minimum field set feeding the deal's calculations (patient, treatment, response, resource use); every field's definition and measurement time fixed by protocol. Layer 2 — Collection system: digital entry from centres, with e-Nabız/hospital integration where possible; double entry prohibited. Layer 3 — Verification: payer-company data matching, sample audits and a dispute route; data mismatch is the risk that ends agreements. Layer 4 — Calculation and reporting: automated generation of refund/threshold calculations, quarterly reconciliation reports and the annual management report. The architecture's setup cost is paid once, in the deal's first year; its absence is paid every year — as disputes, loss of trust and renewal risk. Presenting this architecture in the proposal tells the payer "we can operate this deal" and measurably strengthens the negotiating position.

Sources and key takeaways

Core sources: the Summit 2026 and Workshop 2026 final reports (financing panel and survey findings); the Alternative Reimbursement Regulation; international payment practice (NICE HST/managed access, AIFA funds and registries, CEPS early access). Recommended monitoring: the Federation's financing agenda, SGK announcements, institutional echoes of the national-fund debate. Our key takeaways: (1) the right question is not "whether to pay" but "how to pay" — the European lesson; (2) the prevalence definition is a financial parameter; never forget the 85% ultra-rare share; (3) match the risk-sharing palette (threshold, time-limited, outcome-based, pool) to evidence maturity; (4) the registry-measurement architecture is the deal's operating layer and belongs in the proposal package; (5) the company's ethical stance and usage compliance are the trust foundation of every payment model.

Conclusion

The question "should we pay?" has gone bankrupt against the ethical and financial reality of rare diseases; the right question is "how should we pay?". Its answer — risk sharing, outcome-based agreements and fund mechanisms — is built by the preparedness of payer and company alike. Source reports: the Summit 2026 and Workshop 2026 final reports. For alternative payment-model design, see our Public-Industry Alternative Working Models service and reach out.