Table 2.

Description of National Plan for Rare Diseases per country (16, 29)⁴, (54–64)^25,26, (65)²⁷, (66)^28,29.

Country	Characteristics of the national plans
AR	No NP or special legislation for rare diseases.
DE	NP developed and implemented: 7 focus areas, 52 proposed solutions, implemented in 2013. Twenty-eight rare disease institutions have been working together under the name NAMSE since 2009. In 2015 an online information portal (project ZIPSE) has been created, and an interactive map for patients to find centers of expertise.
FR	NP developed and implemented. 1st Ed. 2005–2008: 10 priority areas, budget €100 M. 2nd Ed.: 2011–2014 (budget €180 M), extended to 2016. Focus areas: improve quality of care for RD patients, more international collaboration and French research. Forty-seven specific steps for plan realization, incl. an audit. 3rd Ed. Cancer Plan 2014–2019 (incl. rare cancers). Definition of rare cancer introduced <6/100,000 per year or specialized treatment required due to atypical tumor location or cancer complexity. 2nd edition Cancer Plan structured functions among cancer centers. The NP for “Rare Handicaps” 2009–2013 was created by CNSA (National Solidarity Fund for Autonomy), which financially supports elderly frail and disabled people. The plan focuses on improving access to information on rare disabilities, having unified diagnostic and disease qualification processes, reference centers and introducing specialized care for rare disabilities. The 2nd Edition (2014–2018) has four priorities: support societal integration processes, improve quality of life, ensure age-independent medical care, and support clinical trials. CNSA is responsible for implementation.
KAZ	No NP.
LV	NP developed and implemented. Created for 2013–2015 by a working group consisting of representatives of HCPs, MoH, and patients organizations. The NP was accepted in 2013 but without any budget. Main priorities: access to information on rare diseases and registry creation. Due to lack of resources, the NP only has an organizational and structural role, but not practical.
NL	NP developed and implemented (NPZZ), but has not come to full fruition yet (2017). The plan contains observed hurdles (awareness, organization, research, role of patient organizations, need for coordination), several recommendations (education of HCP's, information management, healthcare organization and access to treatment, scientific research, appointment of a RD coordinator), and both short and long-term priorities within these areas The ZonMW institute has reviewed development/implementation of the NP since 2015, to structure and prioritize the multitude of observations and recommendations. The final recommendation to the MoH was given by ZonMW in February in 2017, with a large focus on creating 300 reference centers (completed) and their role in coordinating healthcare access and expertise down to local healthcare providers.
PL	First draft of an NP was developed by the National Forum for Rare Disorders with the Team for Rare Disorders in 2012, but not implemented (2017). The draft describes in detail screening, diagnostic and genetic tests, reference centers, multidisciplinary care, integrated social support systems for patients and families, education on rare diseases, sources of information, access to orphan drugs and a central registry of rare disorders. A new Plan for Rare Diseases was created in 2017 under leadership of the Polish Ministry of Health with an intention to be implemented in the near future.
RU	No NP.
RO	The MoH, National House for Health Insurance with the National Alliance for Rare Diseases (RONARD) started working on the NP in 2008 and it was proposed in the National Health Program. The draft of Romanian national plan was never adopted as a separate policy document with an allocated budget. Eight priorities were emphasized in this plan: - Establishing legal, social, economic norms and principles - Developing a network/chain of centers involved in diagnosis, treatment, rehabilitation and prevention - Facilitating access to the newest medicinal products and technologies - Improving access to information on rare diseases - Educating doctors - Involvement in clinical trials on rare disorders - Empowerment of patients' organizations and strengthening their role - Development of cooperation with other European countries. The MoH appointed the National Council for Rare Diseases, which has a consultative role and coordinates the implementation of the NP. Due to economic reasons, the implementation period has been extended to 2020.
UA	No NP exists, but legislative amendments concerning rare diseases have been introduced in 2014 (approved in 2015), via which the official list of rare diseases (256 diseases) has been published and rules for reimbursement of OMP's (by state and local budget) were defined and disease registries were introduced. In addition, the “National Action Plan to implement the UN Convention on the Rights of the Child” (August 2016) includes prioritization of pediatric rare disorders.
UK	NP developed and implemented. The National Strategy for rare diseases has been accepted by the MoH in 2013, incorporating 51 commitments for patients with rare disorders to be fulfilled by 2020. Commitments are broad and concern diagnostics, access to information, improvement of healthcare, creation of disease registries, clinical trials. Implementation has started in regions and progress is monitored.
TR	No NP.