Activities in the field of rare diseases in Slovakia. CISARIK František Faculty Hospital Žilina

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1 Activities in the field of rare diseases in Slovakia CISARIK František Faculty Hospital Žilina

2 As we progress? Slovak National Strategy for the Development of Health Care for Patients with Rare Diseases was adopted by Government of the Slovak Republic on 24 October 2012 (Národná stratégia rozvoja zdravotnej starostlivosti o pacientov so zriedkavými chorobami na roky UZNESENIE VLÁDY SLOVENSKEJ REPUBLIKY č. 578 z 24. októbra 2012 )

3 Vision Alliance for RD in Slovakia Commission of the MH of the SR for RD Adoption of criteria for CE European reference network Financial support for RD activities RD registers

4 Vision Alliance for RD in Slovakia Commission of MH of the SR for RD Statute of the Commission of the MH of the Slovak Republic for RD was adopted by the Minister on 24.november 2014 Štatút Komisie Ministdrstva zdravotníctva Slovenskej republiky pre zriedkavé choroby (Rare Diseases RD)

5 Upgraded concept of health care in the field of medical genetics has been adopted by the MH on January 31, 2014 Koncepcia zdravotnej starostlivosti v odbore lekárska genetika, Číslo: S01260-OZS-2014 Dňa: 31. januára 2014

6 Professional guidance document of the Ministry of Health on the standardization of genetic diagnostics of syndrome of hereditary breast and ovarian carcinoma (HBOC) is just before approval

7 National Newborn Screening Centre + 3 regional Recall Centres providing definitive diagnostic procedures and continuous management of confirmed cases Professional guidance of the Ministry of Health of nationwide screening for congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis and certain inherited metabolic disorders in newborns and health care for captured cases November 16, 2012

8 Newborn screening expanded (2012) panel of screened diseases from 4 congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, and cystic fibrosis to 13, to include hyperphenylalaninemia(hpa), leucinosis (MSUD), MCAD, LCHAD, VLCAD, CPT I., CPT II.A, CACT, glutaric aciduria type I (GA I), and isovaleric aciduria (IVA). Od 1. januára 2013 na Slovensku vyšetrujeme v skríningu dedičných metabolických porúch metódou tandemovej hmotnostnej spektrometrie LC- MS/MS nasledovné ochorenia: FKU/HPA, MSUD leucinózu, MCAD deficit acyl CoA dehydrogenázy MK so stredným reťazcom, VLCAD - deficit acyl CoA dehydrogenázy MK s veľmi dlhým reťazcom, LCHAD - deficit 3OH acyl CoA dehydrogenázy MK s dlhým reťazcom, CPT I. deficit karnitínpalmitoyltransferázy I., CPT II/CACT - deficit karnitínpalmitoyltransferázy II/deficit karnitín acylkarnitíntranslokázy, GA.I. glutarová acidúria I, IVA izovalerová acidúria.

9 Basic pillars of the national plan European reference network Research Centres of expertise Quality control Therapy Registries of RD

10 National Registry of Congenital Anomalies Why we decided to use National Registry of Congenital Anomalies as platform for development of Registry of Rare Diseases in Slovakia? Why with substantial cooperation with clinical geneticists now? 1. This Registry of Congenital Anomalies has had a long and successful history in Slovakia. The data have been published since Over these years, the registry has undergone more changes in the system of reporting as significant changes in discovering aetiological connection with congenital anomalies took place.

11 Why we decided to use National Registry of Congenital Anomalies as platform for development of Registry of Rare Diseases in Slovakia? Why with substantial cooperation with clinical geneticists now? 2. As 85% of rare diseases are genetic and a lot of congenital anomalies are genetically conditioned, we were looking for the possibilities of using the existing registries run by the National Health Information Centre to create a virtual registry of rare diseases. In fact, the existing National Registry of Congenital Anomalies appears to be the closest in its nature. 3. On the other hand, provision of medical genetics services in the Slovak Republic has now well established organisational structure, network of providers, personnel and methodical conditions, which ensure high-level services.

12 Year 2013 : Number of CH.A. according to type of risk PRENATALLY DETECTED CHROMOSOMAL ANOMALY RISK of CH.A/ No of cases DS T18 T13 GA Other All Age over 35 years/ screening negative- (745) Positive screening (1968) Ultrasonography (338) Genetic clasical (113) Other risk (74) Alltogether (3252) DS=Down sy., T18=trisomy 18, T13=trisomy 13, GA= gonosomal anamaly, Other= other chromosomal anomalies Genetic register SR Registry of prenatally diagnosed genetic diseases Clinical geneticists have experience with so-called Genetic registry SR, which was run under Slovak Society of Medical Genetics for more than 10 years. Another long term registry run under Slovak Society of Medical Genetics is Registry of Prenatal Genetic Diagnosis (prenatally diagnosed genetic disorders), which we organize for 20 years.

13 Pilot steps in creation Registry of Rare diseases According to Act No. 153/2013 on the National Health Information System and on Amendments and Additions to Certain Laws, since 2014, The National Registry of Patients with Congenital Anomalies consists of: Registry of Congenital Anomalies (all congenital anomalies including inherited and genetic disorders and rare diseases). Registry of Congenital Heart Defects (specific reporting). New reporting forms: Report on Congenital Anomalies in Live Births and Stillbirths (filed in by neonatologists and pedatricians, till now without ORPHA codes) Report on Congenital Anomalies Inherited Diseases, Genetic Disorders and Rare Diseases (new report filed in by clinical geneticists, using ICD 10, OMIM and ORPHA codes ) Report on Congenital Anomalies of the Foetus Genetics (new report filed in by clinical geneticists,using ICD 10, OMIM and ORPHA codes )

14 LIST OF NATIONAL HEALTH REGISTRIES National Registry of Electronic Health Records National Cancer Registry National Diabetes Mellitus Registry National Congenital Disease Registry National Cardiovascular Registry National Registry of Neurological Disorders National Registry of Chronic Pulmonary Disease National Tuberculosis Registry National Arthroplasty Registry National Registry of Patients with Inflammatory Rheumatic Disease National Registry of Persons with Injury Requiring Inpatient Healthcare National Registry of Persons Suspected of Being Neglected, Abused and on Victims of Violence

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