The Rare Lives and Rare Diseases Summit-2026 Report, published by the Rare Diseases Federation in March 2026, lays out the most comprehensive picture of Türkiye's rare disease ecosystem to date: current figures from the national data system, newborn screening performance, the gaps in coding infrastructure, and stakeholder expectations. We distilled the 7 critical numbers from the report that carry direct operational consequences for clinical trial sponsors and CROs. The short version: the market is real and the reimbursement channels are defined; diagnosis and data infrastructure are still maturing; and patient associations now sit at the centre of decision-making mechanisms.
1. 5-7 million people: "rare" is not actually rare
The report states that an estimated 5-7 million people in Türkiye live with a rare disease; General Directorate of Health Services data points to ~5-6.4 million, while the globally accepted figure is that one in every 12-20 people (5-7% of the population) is affected. For sponsors: a highly dispersed but very large population in aggregate — the core reason Türkiye grows the enrolment share of multinational rare disease trials.
2. An average of 7 years: the road to diagnosis
While the average time to diagnosis in Europe is around five years, in Türkiye it stretches to seven years; the report recalls that the global "diagnostic odyssey" lasts an average of eight years. For sponsors: diagnostic delay is the biggest bottleneck in reaching eligible volunteers. Pre-diagnosis networks, genetic diagnosis centres and association connections are the three main levers that accelerate enrolment.
3. 23,851 individuals, 2,082 diseases: the national registry is growing — but it is early days
Established in 2022, the National Rare Diseases Data System can currently track 23,851 unique individuals and 2,082 distinct diseases. That is far below the 5-7 million estimate — clinical knowledge outside the system remains dispersed. For sponsors: the gap is the opportunity. Association registries and natural history studies are the fastest way to generate both enrolment and external-control-arm data. Our association partnership programme was designed precisely to close this gap.
4. 97% success, ~17,000 suspected cases, ~5,000 confirmed diagnoses: the quiet giant
The national newborn screening programme has reached an approximate 97% success rate in recent years; around 17,000 suspected cases are identified each year and roughly 5,000 receive a confirmed diagnosis. For sponsors: this is the most structured channel into early-diagnosed paediatric populations — the backbone of paediatric rare disease research rests on the diagnostic chain the screening programme builds.
5. ~8,000 diseases versus ~500 codes: the invisible barrier in registry infrastructure
ICD-10 can accurately code only around 500 of the roughly 8,000 known rare diseases; with the transition to ICD-11, representation rises to ~5,500 diseases. For sponsors: insufficient coding makes real-world evidence (RWE) generation from hospital data difficult. Coding strategy must be planned from the outset in registry and natural history design — otherwise there is no way to measure where a given population "appears" at all.
6. ~11% of the budget and ~80% of Annex-4/C: the payer side is ready
The report relays that approximately 11% of the domestic pharmaceutical budget (Annex-4/A) is allocated to rare disease medicines, and that nearly 80% of the more than 400 medicines on the Annex-4/C list — which covers medicines supplied from abroad — are used directly in the treatment of rare diseases; the list effectively operates as an orphan drug list. For sponsors: the reimbursement channel is open and well defined. Türkiye is an accessible market for orphan development portfolios, and real-world data produced in association partnerships forms the evidence base for value-based pricing negotiations.
7. 95%: associations are at the centre of the table
In the summit survey, 72% of participants stated that patient associations should definitely serve as active stakeholders in decision-making processes, and a further 23% considered involvement necessary — 95% in total. For sponsors: in Türkiye, association partnership is not a visibility exercise; it is the core channel for enrolment, volunteer education and treatment adherence management. Without an association network, reaching target enrolment in multicentre trials becomes substantially harder in rare populations.
What do these seven numbers tell us?
In rare diseases, the Turkish market is mature, the payment infrastructure is defined and patient communities are organised. The missing link is an operational partner that turns dispersed knowledge into research-grade data. Omega has been conducting clinical research in Türkiye since 1997; since 2019, OmegaCare — the first home healthcare service specialized in clinical research — has been following association patients at home, managing treatment adherence through TURP remote monitoring and IWRS reminders. Explore our association partnership model and our rare diseases therapeutic area, built on more than one million home visits of experience.
Source: Rare Diseases Federation, Rare Lives and Rare Diseases Summit-2026 Report (March 2026). Figures are relayed from the report; the original report is in English.