Developing public awareness of rare diseases

Expanding vocational public education on issues rare diseases

Expand and improve the quality of diagnostics, treatments and care patients with rare diseases

Support for screening of rare and disease prevention

Supporting science and research on rare diseases

Collection of data on rare disease patients and support to the registry rare diseases

Care of quality of life social security patients with rare disease

Inter-ministerial cooperation on rare diseases and action Commission of MZ SR for rare diseases

Foreign cooperation in the field of rare diseases

Update of the Action Plan for the two-year period 2018-2019 National a programme to develop care for patients with rare diseases in Slovak Republic

For the period 2016 – 2020 the task of task B.4. Orders Government of Slovakia No 671/V of 09.12.2015

Priority Task Outputs/
indicators 		Gesturer/
organiser 		Cooperation-
not applicable entities 		Finance-
swelling
/before-
treasure 		Financial envelope
(EUR) 		Pre-
given financial envelope (in EUR)
2018 2019
1. Develop
information
pain very-
nervous system disorderso problem-
maths
ZCH 		1.1. Information of experts
and also the lay public about the ZCH 		Media, Campaigns,
Collections and auctions,
Discussion forums,
Seminars,
Lectures, Leaflets 		SAZCH,
between
national Congress ISCN 		EURORDIS,
PO,
OS, ZP 		MZ SR 5000

Support to International ISCN Congress Bratislava October 2018 (new birth screening) for press conferences, mass media promotion ZCH, cooperation-plating MZ SR nad Congress proceedings
1.2. Website
SAZCH 		Websites SAZCH EURORDIS, Commission
MZ SR, 		0

Support to SAZCH website, presentation
SAZCH na
website MZ SR 		2000

Support to SAZCH website, presentation
SAZCH na
website MZ SR
1.3. Website
NCZI 		Websites,
zCH information,
  		MZ SR Commission for ZCH/NCZ Commission
MZ SR/NCZ 		MZ SR 2000

Processing the chapter on rare diseases into
NCZI publications - analysis of the register of hereditary, genetic and genetic rare diseases
1.4. Orphanet Slovakia
development of the national version,
mass media presentation,
support the use of the site
 Website
ORPHANET , Slovak version 		NAD BA MZ SR Commission for ZCH MZ SR 3000

website support
ORPHANET, Slovak version 		3000

website support
ORPHANET, Slovak version
1.5. Information sources for
public
new-born
selective
screening in Slovakia 		Information sources SCN SR SAZCH MZ SR 2000

Creating a separate SCN website focused on screening and subsequent comprehensive health information workers to inherited metabolic diseases and screened Diseases 		2000

Creating a separate SCN website focused on screening and subsequent comprehensive health information workers to inherited metabolic diseases and screened Diseases
1.6. Helpline ZCH by
eU Enforcement Directives
patients
cross-border health
care, development
cross-border care 		Helpline ZCH SPA,
MZ SR 		OS, SAZCH 0

Analysis of implementation The 2011 EU Directives on Application
patients
cross-border health
care, development
cross-border care 		0

Analysis of implementation The 2011 EU Directives Application
patients
cross-border health
care, development
cross-border care
2. Rozshi-
ho
education-
swelling

very-
nervous system disorders on SCP 		2.1. Programme Conference a
Rare diseases in the Slovak Republic
education' 		Slovak
conference on rare diseases,
current evaluation
results in Slovakia 		MZ SR Commission for ZCH, OS SLS, SLG, SLK,
NCZI, LF 		MZ SR 5000

Support for the implementation of the Programme Conference, including support presentation of the results of the expert workplaces at 7th Slovak conference on rare diseases in Bratislava 		5000

Support for the implementation of the Programme Conference, including support Presentation of the results of expert workplaces at 8. slovak conference on rare diseases in Bratislava
2.2. Support for implementation
training in the field of OSH
within a specialist
study in relevant
specialist study
programmes 		Analysis of ZCH education MZ SR Commission for ZCH Educational
establishments
carried out by
accredited
specialisation study
programmes 		0 Analysis of education on the issue ZCH 0

Analysis of education in the field of CSR and proposals on its Enlargement
3. Rozshi-
ho
and quality-
not applicable
diagnos-
tiku,
treatment and
mayors -
muscle
patients
with ZCH 		3.1. Support and development
health care
development of expertise
workplaces for ZCH in Slovakia 		2 full-bodied
national
expertise
zCH workplaces
slovakia 		MZSR/
health care provider 		Commission of MZ SR, OS,
ZP, SLK, LF,
SAZCH, TERRITORY 		MZ SR based on

Public call
for the purpose of po-
thrushes subsidies within the meaning of article 2 (2) 1
letter (d) the law
č. 525/2010 Z. z.
on the granting of subsidies
under the authority of the Ministry
health in Slovakia
republics to support
implementation of individual
activities
within approved
national programmes 		100 000,00

Improving the material and technical equipment of workplaces dealing with rare diseases 		100 000,00

Improving the material and technical equipment of workplaces dealing with rare diseases
3.2. Availability of quality
treatment for patients with ZCH 		Continuous upgrade
list
available medicinal products
for ZCH and
cooperation on development
professional
guidelines for
treatment of patients
with ZCH 		MZ SR SUKL, SÚDZS, ZP,
FAFUK, Associations
manufacturers/suppliers
Orphanrugs
health
devices 		0

Analysis of the availability of ZCH patients 		0

Analysis of the availability of ZCH patients
4. Screening and
prevention of ZCH 		4.1. Prenatal screening a
prenatal diagnosis ZCH 		Suggestions on Þupgrade"
professional
guidelines 		MZ SR SLS, SSLG, SGPS,
ZP 		0

ÞUpgrade- Expert guidance on prenatal screening of MZ SR 2006 		0

ÞUpgrade- Expert advice on prenatal genetic Testing
4.2. Enlargement and improvement
selective screening in Slovakia
(e.g.: about DMP) 		We will focus on meeting this challenge in 2017 for the development of secondary screening and the organisation of diagnostics; and DMP treatment MZ SR SCN SR, OS, ZP MZ SR based on

Public call
for the purpose of granting
subsidies within the meaning of article 2 (2) of the 1
letter (d) the law
č. 525/2010 Z. z.
on the granting of subsidies
under the authority of the Ministry
health in Slovakia
republics to support
implementation of individual
activities
within approved
national programmes 		0

Analysis of screening and extension status as proposed SCN 		0

Analysis of screening and extension status as proposed SCN
4.3. Link SCN SR
with the laboratory
DMP in DCN Banská Bystrica 		Purchase and supplementing equipment to set up a DMP laboratory in DFN Banská Bystrica SCN SR MZ SR, OS, ZP MZ SR based on

Public call
for the purpose of granting
subsidies within the meaning of article 2 (2) of the 1
letter (d) the law
č. 525/2010 Z. z.
on the granting of subsidies
under the authority of the Ministry
health in Slovakia
republics to support
implementation of individual
activities
within approved
national programmes 		0

Development of secondary screening, diagnosis and treatment of DMP in
DFN BB 		0

Development of secondary screening, diagnosis and treatment of DMP in DFN BB
4.4. Health organisation
care, follow-up
novoro-
dentic screening 		Workshops to
processing
binding rules
complex
care
patients,
selected
novoro-
of denec by screening
development
professional
guidelines
for all species
zCH screenings 		MZ SR SCN SR, OS, ZP 0

Professional guidance on
comprehensive care of patients following neonatal screening

4.5. Archive of dry samples
drops of blood in SCN SR 		Sample archive
dry drop of blood
in SCN SR

  		SCN SR MZ SR 5000

Support the operation of the dry drop of blood archive 		5000

Support the operation of the dry drop of blood archive
5. Supporting science
research
in the ZCH area 		5.1. Resort research in
zCH area
implementation of new ones
technologies (e.g.:
arrayCGH technology
and NGAs) in clinical practice
zCH diagnostics 		Support
administered
research within
grant scheme for
departmental level, i.e.
support
research
projects,
targeted at
zCH issues 		MZ SR MZ SR commission for ZCH,
The Scientific Council of the Slovak Republic,
SLS, OS 		MZ SR based on
Public call
for the purpose of granting
subsidies within the meaning of article 2 (2) of the 1
letter (a) the law
č. 525/2010 Z. z.
on the granting of subsidies
under the authority of the Ministry
health in Slovakia
republics to support
research and development in
mean
health 		0

Analysis of research plans of MZ SR in the field of ZCH 		0

Analysis of research plans of MZ SR in the field of ZCH
5.2. Resort research in
oncology ZCH areas
diseases
implementation of new ones
technologies (e.g.:
arrayCGH technology
and NGAs) in clinical practice
zCH diagnostics 		Support
administered
research within
grant scheme for
departmental level, i.e.
support
research
projects,
targeted at
zCH issues
in relation to
cancer
diseases 		MZ SR Commission of MZ SR,
The Scientific Council of the Slovak Republic,
SLS, OS, Onco-genetic workplaces 		MZ SR based on
Public call
for the purpose of granting
subsidies within the meaning of article 2 (2) of the 1
letter (a) the law
č. 525/2010 Z. z.
on the granting of subsidies
under the authority of the Ministry
health in Slovakia
republics to support
research and development in
mean
health 		0

Analysis of research plans of MZ SR in the field of cancer diseases 		0

Analysis of research plans of MZ SR in the field of cancer diseases
5.3. National support for science
and research in the field of ZCH 		Support
slovakia's involvement in research
eU projects for FCH 		MZ SR MZSR Commission for ZCH, Research Agencies, APPV, VEGA,SAV MZ SR 0

Analyze the research plans of ZCH in Slovakia and engage in European projects 		0

Analyze the research plans of ZCH in Slovakia and engage in European projects
6. Data collection patients-
with ZCH; and support
register genetic
rare -
disorders 		6.1. Virtual project
national register of hereditary, genetic and rare diseases
drawn up on the basis of
cooperation of NCZI and OS 		Implementation of the pilot
project 		MZ SR/
NCZI 		OS, SLS MZ SR 15 000

Supporting the register of hereditary, genetic and rare diseases which is part of the National Register of Congenital Errors 		30 000

Supporting the register of hereditary, genetic and rare diseases which is part of the National Register of Congenital Errors
7. Mayors -
quality of life
social
i'll-
patients with
ZCH (support
and strengthening
PO for ZCH in
SLOVAKIA) 		7.1. Support for PO activities
local and national level,
awareness raising
both lay and professional
public 		Internet portals,
Media (electronic)
i print),
Seminars,
Lectures,
Periodicals, flyers,
Reconditioning stays
associated with
education,
Workshops
(examples of good
- 		SAZCH,
PO 		Commission of MZ SR, OS 0

Support to the work of the PO in the field of health linking and social services for patients with ZCH 		0

Support to the work of the PO in the field of health linking and social services for patients with ZCH
7.2. Support for action
international level,
international cooperation 		Participation of SAS in
Commission of MZ SR for ZCH 		SAZCH PO, Commission MZ SR, EURORDIS,
OS, LF, FAFUK 		0

Workshop SAZCH , MZ SR and EURORDIS on European Reference Networks
8. Between-
departmental
total-
work
problem-
zCH and Departmental
commission 		8.1. Coordination of implementation
resort activities
action plans for the period
years 2016 - 2020 		Action by the Commission
MZ SR v
follow-up
meetings of the European Organisations for the CSOs 		MZ SR Commission of MZ SR 0

Implementation of the European recommendations in the field of CSR 		0

Implementation of the European recommendations in the field of CSR
9. Zahra-
destructive total-
work
zCH areas 		9.1. Support for international
cooperation in the field of FCH 		Participation of members
Commission of MZ SR,
or others
specialists
decisive
between-
national
activities 		MZ SR Commission for ZCH Commission of MZ SR, OS,
SAZCH, NCZI,
WHO 		MZ SR 15 000

Commission support for rare diseases and organisations in Slovakia ZCH area in the framework of the implementation of the work activities in the field of ZCH (e.g.: involvement of expertise in ERN, evaluation of the fulfilment of the criteria in the applied applications Health care providers for inclusion in National List of Workplaces for the CSC, major European workshops, international conferences, etc.) 		15 000

Commission support for rare diseases and organisations in Slovakia ZCH area in the framework of the implementation of the work activities in the field of ZCH (e.g.: involvement of expertise in ERN, evaluation of the fulfilment of the criteria in the applied applications Health care providers for inclusion in National List of Workplaces for the CSC, major European workshops, international conferences, etc.)
Financial means necessary to carry out activities arising from the 2018 Action Plan in question: 150.000,- EUR Predicted funds needed to carry out activities Following the 2019 Action Plan in question:
164,000,- EUR

Explanatory notes to the following abbreviations:
ArrayCGH Array comparative genomic hybridization
APPV Agency for Science and Research
CEG RD Commission Expert Group on Rare Diseases Commission Group on Rare Diseases)
NAD BA National Institute of Children's Diseases Bratislava, II. Children's Clinic
DMP Inherited metabolic disorders
EUROORDIS European Organisation for Rare Diseases Alliance of patient organisations and individuals with rare diseases)
ERN European Reference Networks
FAFUK Faculty of Pharmacy of Comenius University in Bratislava
FNsP FDR BB Faculty Hospital with Polyclinic F. D. Roosevelta Banská Bystrica
Commission of MZ SR Commission of the Slovak Ministry of Health Rare diseases (RareDiseases – RD)
LF Medical faculties
MZ SR Ministry of Health of the Slovak Republic
NCZI National Health Information Centre
NGS Nextgenerationsecencing
ORPHANET The referencealforinformation on rare diseases and orchan Drugs (European Information Portal on Rare Diseases and Medicinal Products) rare diseases)
OS Professional companies
PO Patient organisations
SAV Slovak Academy of Sciences
SAZCH Slovak Alliance of Rare Diseases
SCN SR Screening center of newborns in the Slovak Republic
SGPS Slovak Gynaecological and Birth Society
SLK Slovak Medical Chamber
SLS Slovak Medical Society
SSLG Slovak Society of Medical Genetics
NUKL State Institute for Medicinal Products Control
TERRITORY Health Care Supervisory Authority
VEGA is a scientific grant agency of the Ministry of Education, Science, Research and Sport of the Slovak Republic (MŠVVaŠ SR) and Slovak Academy of Sciences (SAV)
ZCH Rare Diseases
ZP Health insurance undertakings