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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
  1. Abbreviations Administración Nacional de Medicamentos, Alimentos y Tecnología Médica; BMBF Bundesministerium für Bildung und Forschung, Federal Ministry of Education and Research; CARDPT China Alliance for Rare Disease Prevention and Treatment; CIHR Canadian Institutes of Health Research; CORD Canadian Organization for Rare Disorders; EU European Union; DORA Doenças Raras, rare diseases; FEMEXER Federación Mexicana de Enfermedades Raras, Mexican Federation for Rare Disorders; HTA Health technology assessment; IRDiRC International Rare Diseases Research Consortium; NHI National Health Insurance; NHIF National Health Insurance Fund; NICE National Institute for Health and Care Excellence; NP national plan; OD orphan drug; RD rare disease; RDI Rare Diseases International; TFRD Taiwan Foundation for Rare Disorders