Download B.1.23 SLOVAKIA Definition of a rare disease Stakeholders in

B.1.23 SLOVAKIA
Definition of a rare disease
Stakeholders in Slovakia accept the European Orphan Drug Regulation definition of a
prevalence of no more than 5 in 10’000 individuals.
National plan for rare diseases and related actions
No national plan for rare diseases currently exists in Slovakia. However, after longer
discussion previous year (2010) at the Ministry of Health at the beginning of 2011 a Working
group at the Ministry of Health was established. It is composed from the experts in the field of
rare diseases and its main aim is to work on the “National plan for development of health care
for patients with rare diseases, “NP RD SR”. The NP RD SR has to be ready till the end of
2013. Also National conference on RD is planned through that time.
However, there were some new practical developments in 2010 regarding health care in the
field of rare diseases. Ministry of Health accepted guideline for organisation of health care for
people suffering by cystic fibrosis and Wilson disease.
Doctors mainly take their own initiatives in this field without advice from guidelines and
cases are dealt with individually. Some doctors who take a special interest in a certain rare
disease attempt to gather these patients and provide them with appropriate health care in
collaboration with foreign institutes on the basis of personal contacts.
Health care for several RD is centralised mainly at Departments of Clinical Genetics (12),
Centre for metabolic diseases (1), several mebatolic or specialised outpatient clinics.
In 2009 and also in 2010, owing to the economic crisis, the Ministry of Health froze
projects concerning rare diseases and there were no new calls for funding for the next year,
where there were previously calls to obtain funding for projects concerning rare diseases,
including rare disease research. There is no specific budget currently dedicated to rare
diseases.
Centres of expertise
There are currently no official policy and centres of expertise for rare diseases in Slovakia.
Registries
No new registries were established in 2010.
We are working on registry for alkaptonuria, we are working on analysis of health care
registries provided in Slovakia by National Centre of Health Informations (NCZI) with aim to
choose data about RD.
Slovakia contributes to the EUROCARE CF European registry.
Registry of congenital anomalies is financed from budget of Ministry of Health , another are
sponsored.
Neonatal screening policy
Neonatal screening is available in Slovakia for phenylketonuria, cystic fibrosis, congenital
adrenal hyperplasia and congenital hypothyroidism. In addition to this, newborns are screened
nationwide for hearing impairments.
Screening Centre of Slovak Republic SCN SR was accepted as right member of EUNENBS
( European Union Network of Experts on Newborn Screening ) , and results of the activities
SCN were presented at regular conference in Rome.
There is not addition to the list of rare diseases tested.
Genetic testing
Small country as Slovakia is, cannot develop many laboratories for genetic testing. Genetic
testing is organised by departments of medical genetics (12), specialised genetic outpatient
clinics or specialised departments of oncogenetics (2). There are 3 bigger DNA laboratories
which perform molecular diagnostics about 350 monogenic mendelian disorders. But there
are not reference laboratories till now.
National guidelines specially for genetic testing are not developed .
Specific provisions for the reimbursement of tests are not in place. Genetic testing for
nonmedical reason is payd by person.
Genetic testing abroud is usual and is made mainly in Czech republic.
National alliances of patient organisations and patient representation
There is no RD national alliance of patient organisations at the moment in Slovakia, although
patient organisations for certain rare diseases exist ( Marfan syndrome, Muscular dystrophy,
Hemophilia, Cystic fibrosis, Huntington disease, Mucopolysacharidosis, Phenylketonuria,
Williams syndrome, Dystrophic epidermolysis bullosa ). There are no public funding
schemes for patient organisations in Slovakia. There is small real platform for patients to
voice their opinions: most complaints are dealt with on a case by case basis by the “Bureau
for control of health care”. However one patient representative is a part of the Working group
for RD established by the Ministry of Health (2011).Some patient organisations are member
of NR OZP SR (National Disability Council in Slovak Republic).
Sources of information on rare diseases and national help lines
Orphanet activities
Since 2006 there is a dedicated Orphanet team in Slovakia, the team was hosted before 2010
by the Institute of Molecular Physiology and Genetics in Bratislava. In 2010, in the context if
the Joint Action Orphanet Europe, the Ministry of Health designated the 2nd Department of
Paediatrics of the University Children’s Hospital Bratislava as the official Orphanet team for
Slovakia. This team is in charge of collecting data on rare disease related services (specialised
clinics, medical laboratories, ongoing research, registries, clinical trials and patient
organisations) in their country for entry into the Orphanet database.
Official information centre for rare diseases
There is no official information centre for rare diseases other than Orphanet in Slovakia.
Help line
There is currently no dedicated help line for rare diseases at the moment.
Other sources of information on rare diseases
Information sources on rare diseases are mostly run by non-governmental organisations with a
few projects supported by the state and its municipalities.
There was only small progress of information on RD.
Best practice clinical guidelines
There were developed best practice guidelines for cystic fibrosis, Wilson disease, hemophilia.
Slovakia did not participated in elaboration of European best practice guidelines.
Training and education initiatives
There were not special training or education initiatives organised systematically in 2010.
Europlan national conference
Slovakia did not hold a Europlan national conference in 2010.
National rare disease events 2010
The only regularly organised conference is Izakovic's Memorial Conference which is
organised every year by the Society of Medical Genetics. It is conference about medical
genetics but in 2010 was not specially targeted on topic of RD.
Slovak Cystic Fibrosis Conference is regularly organised since 1999 every 2nd year.
With the support of the Faculty of Pharmacy, according to the “Rare disease day”, some
incentives were started to assemble more information about the situation in the field of rare
diseases directly from patients organisations perspective. The information about “Rare disease
day” was forwarded to patients organisations together with a short questionnaire. The main
aim was to find out their awareness about rare disease. There was low respond, however these
information is under evaluation.
Hosted rare disease events 2010
No.
Research activities and E-Rare partnership
Research activities
There are not specific programmes for RD research in Slovakia .
There were calls for JA projects of ORPHANET.
E-Rare
Slovakia is not currently a partner of the E-Rare Project.
Participation in European projects
Slovakia participates in the following European Reference Networks for rare diseases:
Dyscerne and Care-NMD. Slovakia participates in the following European research projects
on rare diseases: ANTEPRION and NM4TB. Slovakia contributes to the following European
registry: EUROCARE CF.
Orphan drugs
Orphan drug committee
In line with the European law (Parliament and Council Regulation (EC) No 141/2000)
Slovakia has one regular representative taking part in the monthly meetings of the Committee
for Orphan Medicinal Products (COMP) and thus actively takes part in the procedure of
designation of medicinal products as orphan medicinal products (OMP) and other incentives
oriented in development, research and placing (OMP) on the market.
Orphan drug incentives
No specific activity reported.
Orphan drug availability
SUKL, the State Institute for Drug Control, is the regulatory body in the SR responsible for
the regulation and surveillance of human medicinal products and medical devices, including
OMP. Slovak Ministry of Health is responsible for pricing and reimbursement of all drugs as
well as OMP. The reimbursement level is set in a national process named “categorization”.
Quarterly a “categorization list” of all drugs reimbursement is published. Currently in the last
categorisation (1.4.2011 list of drugs) there are 30 orphan medicinal products (out of 62
registered in the EU and thus in SR (8 for paediatric use). The drugs are distributed mainly
trough pharmacies as well as on the centre base, depending on reimbursement category which
is also set in the “categorisation list”.
Other initiatives to improve access to orphan drugs
Only categorized drugs are directly available at the Slovak market. In case the drug is not
categorized the drug could be delivered on patient-name basis. Responsibility for approving
delivery on a patient-name basis rests with the Ministry of Health according to Act 140/1998.
There is no information about compassionate use.
Several activities were performed in the previous year to stress the importance of OMP
availability and to inform care givers, insurers as well as other health care professionals about
situation in SR (seminar in cooperation with State institute for drug control and Slovak
Society for Pharmacoeconomics available at http://www.sukl.sk/sk/o-nas/vzdelavacie-akciea-prezentacie/prezentacie-2010/dostupnost-orphan-liekov-v-sr
Or publications written in English Foltánová, T. - Petrová, L. - Mazág, J.: The need for
pricing and reimbursment policy of orphan medicinal products in the Slovak republic
(http://www.fpharm.uniba.sk/index.php?id=2326)
Orphan drug pricing policy
No information reported yet.
Orphan drug reimbursement policy
In the SR the OMP are mainly fully reimbursed. However the trend is slowly changing. And
with more drug directly available at the Slovak market, some of them need also patients
financial participation. Whereas in the previous “categorisation list” only Innovelon had a
symbolic co-payment in the actual “categorisation” already 9 drugs are not fully reimbursed.
The highest co-payment is for Myozyme plc ifo 25x 50 mg (287,61 euro), where as other
forms of Myozyme are without co-payment. However generally the co-payments are minor
and OMP are mainly covered from public health insurance.
Rare diseases patients are reimbursed for most medications, and the initiatives to improve
access to treatment have come from patient organisations, with some governmental support.
Orphan devices
No information reported yet.
Specialised social services
Care services, both government-run and private, are available in Slovakia and partial or full
reimbursement is available (depending on certain criteria). Therapeutic programmes such as
spa stays are available and paid mainly through private health insurance.