Table 1 Summary of rare disease policy and regulatory frameworks across 11 countries
From: Review of 11 national policies for rare diseases in the context of key patient needs
France | Germany | UK | Canada | Bulgaria | Turkey | Argentina | Mexico | Brazil | China | Taiwan | |
|---|---|---|---|---|---|---|---|---|---|---|---|
National Policy | Two plans implemented; Launch of third plan underway | Adopted; implementation underway | Plan adopted for all 4 UK nations; implementation underway | Adopted; implementation underway | Approved; limited implementation | Draft guideline passed; implementation delayed | Approved; awaiting implementation | No uniform plan | In early implementation stage | None | Adopted; implementation underway |
Authorization Process | Central EU authorization COMP OD Designation | Central EU authorization COMP OD Designation | Central EU authorization COMP OD Designation | Accelerated review available | Central EU authorization COMP OD Designation | No defined OD designation | ANMAT regulates conditions for drug approval Streamlined authorization available for US or EU-approved drugs OD registration process in place | Accelerated review available Process in place for OD classification | Accelerated review available; timelines vary No special registration process for ODs | Delays in OD drug approval despite fast-track program No distinction between ODs and regular drugs | Accelerated review available Process in place for OD classification |
Early Access Programs | Processes in place for ODs with and without market authorization | Granted during the third phase of the clinical trial and when the product’s safety and efficacy are guaranteed. | Early Access to Medicines scheme approved, but not specific to RD | No plan for early access; Patients may apply to the Special Access Program in special circumstances | No legal provision for early access | Program available for patients with unmet medical needs meeting defined criteria | Program for free access to drugs from other countries in place | No programs in place | No legislation or programs in place Unregistered medicines can be imported upon request | ODs yet to be authorized may be available through donation programs | No formal NP in place, but policies implemented Unregistered medicines can be imported upon request |
Current Access to Treatment | Market authorization required ODs can only be prescribed in RD competence centers (+500 in France) No OD-specific funding | Several initiatives exist to improve access to ODs No OD-specific funding | NICE HST review process for ultra-orphan drugs Scotland’s New Medicine Fund allocated £80 M for ODs | ODs assessed through same HTA process as other drugs Provincial Drug Plans-special provisions for ODs | Access to ODs improved markedly over last 4 years Special considerations for HTAs of ODs 10% of annual NHIF budget allocated to ODs | Pathways for access are defined No OD-specific funding | Comprehensive RD patient care: Act 26.689 not yet implemented Refund system provides financial support to Social Health Service for select drugs | Limited information available No OD-specific funding | Limited access through public health system No OD-specific funding | No special access considerations No OD-specific funding | Special access considerations Several drugs approved recently Separate budget not covered by NHI |
Diagnosis Programs | Neonatal screening available for 4 pathologies (2 RDs) Inequality in access to tests | Newborn screening available for 14 conditions Screening and genetic testing mandatory, but no specific RD policies | The UK Rare Disease Strategy does not specifically contain early diagnosis programs Expansion of RD testing in newborns as of 2015 | Provincial newborn screening programs vary in number and conditions Health Ministers to implement screening programs for 22 conditions | National program for early diagnosis expected to be fully funded/operational by 2016 | Few public diagnosis centers Neonatal screening for 3 RDs through Ministry of Health Genetic testing at universities; testing abroad possible | Legislation passed, but no programs in place | No early diagnosis initiatives Limited newborn screening Early Diagnosis Clinic under development | Newborn screening available for 6 RDs Main rare diseases research centers is located in the Federal University of Rio Grande do Sul,for diagnosis | No national screening and/or diagnostic programs available | Improved screening and diagnosis in development Nation-wide newborn screening program for 26+ diseases |
Coordination of Care | 131 centers of reference and 501 centers of competence are in place | RD expert centers and networks for cross-border research in place | UK Strategy for Rare Diseases Calls for specialist centres to deliver coordinated care, 150 providers of highly specialized services | Centers of Expertise in specific rare diseases; some linked to research across sites with adult clinics No national coordinating body for all RD Centers of Expertise | Not in place RD committee not yet operational | Few centers with specialized services; mostly university hospitals and research centers | Planned: Act 26.689 Cibersalud launched to strengthen specialist networks “Hiptour” patient-lead initiative provides medical guidance to HCPs | No developed centers, but functionally active network of 12 civil organizations Lysosomal Storage Disease Network: diagnosis, treatment, support | National policy initiated with accreditation of specialized health centers in progress; | No comprehensive specialist centers Centers for specific RDs located in Beijing and Shanghai Most mature treatments for hematologic RDs | No comprehensive specialist centers 10+ RD genetic counseling centers approved Some NPs implemented but coordinated care not fully developed |
Research | 300+ funded clinical research projects Funding allocated for basic and clinical research Banque Nationale de Données Maladies Rares national database launched European/international collaborations developed | 28 RD organizations supported by Ministry of Education and Research BMBF funding 12 research projects; €23 million allocated for 3 years Cross-border research projects No central coordinated RD registry | Collaborative initiatives with pharmaceutical companies for patient-centered research exist UK10K project on RD genetics Public Health England intends to build national RD registry | Canadian Institutes for Health Research funds basic and translational research Proposed formal inclusion of RD research in CIHR, Genome Canada, and IRDiRC | Growing awareness but few research initiatives in place Centralized patient registry approved but not yet operational | No initiatives, networks, or cross-border collaborations No national registries, but Turkey participates in European registries Comprehensive national epidemiological survey underway | No national initiatives in place Some research conducted with support from patient organizations, research grants, or private initiatives Legislation passed, but registries still under development | No funded research projects or initiatives Development of RD patient database in progress | Few incentives; no long-standing initiatives; Initiative in 2014 by the National Council of Scientific and Technological Development (CNPq), which screened and funded 15 research projects devoted to rare diseases (diagnosis and treatment) Bill to secure RD research funding under review No national registries Patient groups collect data DORA program and FEMEXER RD database in development | CARDPT national research program initiated in 2013 Cross-border initiatives gaining momentum No national centralized patient database/registry Registry launched at local level in 2013 Patient group-developed database in progress | No RD-specific national registry National disability registry in place and hemophilia registry in development |
Patient Engagement | Established patient organizations are engaged and play a role in RD policy | Established patient organizations are engaged and play a role in RD policy | Established patient organizations play active role Stakeholder engagement by Rare Disease UK and Specialized Healthcare Alliance | Patient group support and advocacy facilitated by CORD National Strategy launched with Rare Alliance Canada | Patient organizations actively engaged Implemented support and education programs and played a role in the launch of 13 RD registries | Little information available | Patient organizations play active role Collaborations with government aided implementation of RD legislation and programs | Patient organizations play an important, active role | Patient organizations play an important role | Patient advocacy groups limited but localized RD groups raise awareness/promote legislation Chinese Organization for Rare Disorders active in RDI | Strong patient support/advocacy groups active in RD policy TFRD helped pass 2000 Rare Disease Control and ODA |
Gross National Income per Capita (2015) | 40,580 | 45,790 | 43,340 | 47,500 | 7220 | 9950 | 13,640 | 9710 | 9850 | 7820 | 22,723 |
Healthcare Spending (% GDP) | 11.5 | 11.3 | 9.1 | 10.4 | 8.4 | 5.4 | 4.8 | 6.3 | 8.3 | 5.5 | 6.6 |
Average Wealth Healthcare Rank | 1.8 | 2.3 | 2.3 | 2.8 | 7.8 | 6.5 | 7.0 | 7.3 | 6.5 | 5.0 | 8.8 |