BULGARIAN NATIONAL PLAN. Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD)

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1 BULGARIAN NATIONAL PLAN FOR RARE DISEASES Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD)

2 Strategy for rare diseases in Bulgaria Project of National Program for Rare Diseases November 2006 March 2008 the Healthcar re Committee at the Bulgarian National Assembly started discussion on issues concerning prevention, diagnosis, treatment and rehabilitation of people with rare diseases in Bulgaria September 2008 Mr. E. Zhelev, Minister of Health, has approved the National Programme for Rare Diseases ( )

3 National program for rare diseases (genetic, birth defects and non inherited diseases) To create an adequate institutional framework and mechanisms, ensuring timely prevention, diagnosis, optimal treatment and rehabilitation of patients with rare diseases (genetic, birth defects and non inherited diseases) in Bulgaria. Patient associations Awareness Integrationn Research Medical training Neonatal screening Genetic services Epidemiological surveillance EU collaboration Budget: 11.3 M???

4 Program Activities 1. Establishment of a National Consulting Council for Rare Diseases (NCCRD) within the Ministry of Health

5 Program Activities 2. Establishment of expert panels for rare diseases working with the national consultants The main task is to propose to NCCRD a list of actual for Bulgaria rare dis seases within the scope of their corresponding medical specialty. Status still working on!!!

6 Program Activities 3. Establishment of a national network of information reference centres for rare diseases

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8 Program Activities 4. Establishment of a national register of patients with rare diseases Status still working on!!!

9 NATIONAL ALLIANCE OF PEOPLE WITH RARE DISEASES NATIONAL ASSOCIATION OF GAUCHER DISEASE CORNELIA DE LANGE SYNDROME ASSOCIATION ASSOCIATION OF LYMPHOMA PATIENTS ASSOCIATION EPIDERMOLYSISS BULLOSA BULGARIA BULGARIAN ANTI THALASSAEM MIA ORGANISATION ORGANISATION OF THALASSAEMIA PATIENTS IN BULGARIA BULGARIAN ASSOCIATION FOR NEUROMUSCULAR DISEASES NATIONAL ASSOCIATION OF PEOPLE SUFFERING FROM CHRONIC MYELOGENOUS LEUKEMIA BULGARIAN ASSOCIATION PRADER WILLI SYNDROME BULGARIAN CYSTIC FIBROSIS ASSOCIATION BULGARIAN ASSOCIATION WILSON'S DISEASE

10 Program Activities 5. Improvement of the prevention and diagnostics of rare genetic diseases, predispositions, and congenital anomalies (PKU, CHT, 21 hydroxylase deficiency) 6. Improved treatment control of genetic and congenital diseases Introducing of mass neo onatal screening for 21 hydroxylase deficiency Promotion and Enlargment of Biochemical Screening for most common aneuploidies Introducing of genetic test for mental retardation, several monogenic disorders Introducing of methods for clarifying the carrier status in families with DMD, and SMA

11 List of disorders PKU Hyperphenylalaninemia Tyrosinemia I Tyrosinemia II MSUD Nonketotic hyperglycinemia Citrullinemia (ASS) Argininemia (ARG1) Alkaptonuria Methylmalonic acidemia Propionic acidemia Holocarboxilase synt. def. MLYCD Malonyl CoA decarboxilase def. Isovaleric acidemia (IVA) 3M crotonyl CoA Carboxilase def. (MCCC1) 3 M glutaconyl CoA hydratase def. (MGA3) III 3 OH 3 M Glutaric aciduria (HMGCL) Mevalonic aciduria (MVK) Dihydropyrimidine deficiency (DPD) Orotic aciduria 5 Oxoprolinuria Glutaric aciduria I (GAI) 2 OH Glutaric aciduria Glyceroluria (GK1) D Glyceric aciduria (D glycerate kinase deficiency) Fumarase def. (FH) Canavan 4 OH butyric aciduria (SSADH) MCAD SCAD LCAD LCHAD MADD (glutaric aciduria II) X ALD Lipoamide dehydrogenase defficiency (Е3) Galactosemia, classic Galactokinase deficiency G6PD deficincy GM1

12 List of disorders Orotic aciduria 5 Oxoprolinuria Glutaric aciduria I (GAI) 2 OH Glutaric aciduria Glyceroluria (GK1) D Glyceric aciduria (D glycerate kinase deficiency) Fumarase def. (FH) Canavan 4 OH butyric aciduria (SSADH) MCAD SCAD LCAD LCHAD MADDD (glutaric aciduria II) X ALD Lipoamide dehydrogenase defficiency (Е3) Galactosemia, classic Galactokinase deficiency G6PD deficincy GM1 Orotic aciduria 5 Oxo oprolinuria Glutaric aciduria I (GAI) 2 OH Glutaric aciduria Glyceroluria (GK1) D Glyceric aciduria (D glycerate kinase deficiency) Fumarase def. (FH)

13 List of disorders alpha 1 antitrypsine deficiency CCFDN GEFS+ Congenital myasthenia epsilon disease DMD BMD XLD LMD2A CMT 1A CMT 1B CMT 1F/2E CMTX1 CMT 2A: CMT 2A2, CMT 2A1 CMT 2D DI CMTC Spinal muscular atrophy type I (SMA 1) Spinal muscular atrophy type II (SMA 2) Spinal muscular atrophy type III (SMA 3) Beta thalassemia Cystic fibrosis Hemophilia A Dilatative cardiomyopathy (CMD1A), lamin A/C Familial partial lipodystrophy (FPLD), lamin A/C Mandibuloacral dysplasia (MAD), lamin A/C Hutchinson Gilford progeria syndrome (HGPS), lamin A/C Werner's syndrome (WS), lamin A/C Restrictive dermopathy (RD), lamin A/C Ken nedy disease CCFN CMS Niemann Pick disease MCAD HMSNL Smith Lemli Opitz syndrome Myotonic dystrophy 1 Steinert Disease Myotonic dystrophy 2 PROMM MUSCULAR DYSTROPHY, CONGENITAL MEROSIN DEFICIENT, 1A; MDC1A Huntington chorea, huntingtin

14 Program Activities 7. Improved communication among the medical genetic consulting offices throughout the country 8. Improved genetic and screening network structure in the country Internet based usag ge of software for risk calculation between the centers providing Biochemical Screening for aneupolidies Internet access to the results from Biochemical Screening for the patients.

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16 Program Activities 9. Increase of the awareness, knowledge and professional qualification of the medical professionals. Meeting of the neonatologist for education in early diagnosis of ly ysosomal storage disorders in neonatal period Meeting of pediatricians for education in early diagnosis growth hormone deficiency in children

17 Program Activities Equal access to diagnostics and prevention in minority populations

18 Roma population Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet Oct;14(2): Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Ne eurol Jun;45(6):

19 Roma population Equal access to diagnostics and prevention OMIM ID A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet Sep;67(3): Epub 2000 Jul 27.

20 Program Activities Prenatal diagnosis s 1900 for diagnosed eneuploidies 8 risk pregnancies for monogenic disorders

21 "You got to make good out of bad "That's alll there is to make it with." Robert Penn Warren