Projects / Programmes
Analysis and development of rare diseases field in Slovenia
| Code |
Science |
Field |
Subfield |
| 3.05.00 |
Medical sciences |
Human reproduction |
|
| Code |
Science |
Field |
| B000 |
Biomedical sciences |
|
| Code |
Science |
Field |
| 3.02 |
Medical and Health Sciences |
Clinical medicine |
Rare diseases; Patients registry; Orphan diseases; Orphan drugs; Neonatal screening; Edukacija
Researchers (22)
Organisations (4)
Abstract
Rare Diseases (RD) are individually rare – they are defined by the incidence of less than 1 patient in 2000 (e.g. 5 per 10,000 persons) - but their total number is estimated at over 7,000 diseases, so they are frequent cumulatively. It is estimated that as many as 6-8% of the people have one of the RD, which means that in Slovenia, according to rough estimates, around 150,000 patients have a RD (accurate epidemiological data is not available). In 75% the RD occur in childhood and in 30% the patients with RD pass away in 5 years. 80% of RD have a genetic origin. Treatment of RD is specific due to their rarity, genetic nature, multi-organ dysfunction and the chronic course of the disease; their low prevalence requires specialist treatment with highly qualified experts, special diagnostics and multidisciplinary approach that includes psychological support, physiotherapy and palliative care with social support. With that in mind the European Commission in 2009 issued a recommendation that requires the member states to direct and to organize RD treatment. On this basis, the Ministry of Health adopted a Plan of work in the field of rare diseases in the Republic of Slovenia in 2012 (hereinafter Plan). The Plan, among other things, provides the establishment of centers of reference in the field of RD, which will provide a comprehensive and wholesome treatment. The Plan also identifies other key aspects of the preparation of a national strategy for the area RD: creation of a national registry of RD, formulation of indicators of quality of care, an effective system of screening, information, etc.
In practice, patients with RD face many problems; according to a survey EurordisCare, they often get the right diagnosis late; faced with the lack of information, lack of knowledge of the disease by health workers, inadequate health and social care, and difficult to access and expensive treatment.
For an educated formulation and tracking of the effects of health policies on primary prevention of RD and health care of patients with RD, it is necessary to know the epidemiological data, including information on the treatment and use of orphan medicinal products. Registries constitute an appropriate way of unbiased data collection, monitoring areas of RD and epidemiological or clinical research and can greatly contribute to improving health care and planning patient care. For these reasons, the development of registers of RD is one of the priorities in the area of surveillance and control of RD in the EU, to which the specific recommendations and measures to support the development of such registers in European health resolutions and strategic documents testify. National registry of RD in Slovenia has not yet been established, but its establishment is listed among other key activities in the Plan and one of the tasks of the Action Plan for RD in 2015. Some partial clinical registries, which include RD, exist. Among the examples of major registries of RD in Slovenia are clinical registry of children with inborn metabolic diseases (IMD), patients with cystic fibrosis, patients with Fabry disease, etc., but this is not sufficient to produce estimates at the national level.
For the design of a wholesome treatment of patients with RD key indicators of quality of care, which are important to objectively benchmark the situation and progress in a given area, are also crucial. The two main purposes of the benchmarks in the field of are the score of RD importance in terms of public health problems, and facilitating monitoring of status and changes in the field of RD.
For early detection of a significant part of RD, which belong to the IMD, newborn screening is key. In Slovenia newborn screening program includes only two diseases (phenylketonuria and congenital hypothyroidism). In most countries of European Union and in the USA, routine newborn screening includes more than 20 different IMD. So far in our country recommendations to define the strat
Significance for science
Rezultate projekta je mogoče uporabiti za poučeno oblikovanje in sledenje učinkov zdravstvenih politik primarnega preprečevanja redkih bolezni (RB) ter zdravstvene oskrbe bolnikov z RB na sekundarnem in terciarnem nivoju. Končni izsledki analiz bodo omogočili boljši vpogled v epidemiološke podatke o bolnikih z RB, vključno s podatki o zdravljenju in uporabi zdravil sirot.
Izdelava pilotnega registra za RB bo omogočila pridobivanje celovitejše slike o obsegu bolnikov z RB v Sloveniji, kvaliteti njihovega zdravljenja in tudi ekonomskih vidikih le-tega. Zasnova pilota bo omogočila ustrezne strokovne in politične odločitve na področju RB v Sloveniji.
Raziskave RB zahtevajo sodelovanje med ekipami z različnih področij ter dostop do podatkov in bioloških materialov zbranih na ravni EU, da se zagotovi ustrezna velikost vzorca. Na tem področju so zlasti pomembni skupni raziskovalni in koordinacijski projekti ter vzpostavitev skupnih infrastruktur: evidence, zbirke podatkov, arhivi in tehnične platforme.
Načrtovani nacionalni register za RB bi lahko predstavljal vir podatkov za tovrstne raziskave.
Significance for the country
Pričakuje se lahko posredna korist zaradi izboljšanja zgodnje diagnostike in uspešnejše obravnave ter rehabilitacije bolnikov z RB, kar prispeva k povečanju delazmožnosti bolnikov z RB. Prav tako bo za pripravo tehničnega oblikovanja registra potrebno sodelovanje industrije s tega področja.
Most important scientific results
Final report
Most important socioeconomically and culturally relevant results
