ARMENIA. Albert Matevosyan MD,PhD

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1 Albert Matevosyan MD,PhD Neurohereditary Diseases Charity Association Head of Republic Center of Medical Genetic and Department of Medical Genetic Yerevan State Medical University Rome EUROPLAN (Italy) FINAL CONFERENCE Rome, Italy - February 25, 2011

2 Information about rare diseases Neuromuscular and neurodegenerative diseases (myodystrophy, spinal and neural amyotrophy, myotonia, hereditary ataxia and subcortical degeneration), more than 45 types patients from З45 families (database of RCMG). Phenylketonuria (57 patients - database of RCMG). Congenital Hypothyroidism (36 patients - database of MC Arabkir ). Mucopolysaccharidosis (14 patients - database of RCMG). Cystic Fibrosis (30 patients - database of RUCM). Williams Syndrome (5 patients - database of RCMG). Congenital malformations (120 patients - database of RCMCHP). Chromosomal syndromes (more 220 patients - database ACAG). Mediterranean fever (for Armenia it s not Rare disease) 2-3:1000 people. Other forms of rare diseases - described more than 60 forms.

3 Education about rare diseases Annual scientific conferences and seminars for practical doctors of Yerevan and republic rsegions(from 5 to 12 meetings per year). Learning program in postgraduate education for family doctors (the last 7 years). Educational program and learning of students of medical university. Prepared web-site: Preparation and distribution of booklets and new information about RD from our European collaborating organizations (EURORDIS, ICRD, IPWSO, ENMC). it is prepared a photo- and a video data on RD for the teaching course for doctors and students (thousands photos and video materials). In 2008 the Project on Prader-Willi Syndrome was executed by support IPWSO and Lyncy fund (USA) Constant informational work with parents of patients, involving them into creation of the patient organizations.

4 Diagnostics of rare diseases Governmental program of neonatal screening on PKU (since 2008). Governmental program of neonatal screening of congenital hypothyroidism (since 2005). Diagnosis of neuromuscular and neurodegenerative diseases (biochemical examination, EMG, EEG, NMR etc.). DNA diagnosis of Mediterranean fevers and cystic fibrosis. Cytogenetic examination (karyotyping and FISH). Prenatal and neonatal screening (ultrasound, biochemical screening) in 2 leading medical centers. Collaboration with foreign laboratories and centers for DNA and other examination of patients RD (Switzerland, Italy, Germany, Russia etc).

5 Treatment patients with rare diseases Patients with hypothyroidism, cystic fibrosis and mediterranean fever are completely provided by medical drugs. Patients with phenylketonuria receive free of charge medical dietary mixes. Patients with blood diseases (hemophilia and leucosis) are to some extent provided by treatment. There are no drugs for patients with mucopolysaccharidosis. There aren t specialized and rehabilitation centers for patients with neuromuscular and neurodegenerative diseases. Problems with provision Orphan drugs and regular provision diet mixes for PKU Absence of specialized rehabilitation centers

6 Rehabilitation of Rare diseases Rehabilitation patients with rare diseases is carried out in three rehabilitation centers and in the different children hospitals. In republic there are more than 20 centers for different form diseases. But unfortunately we do not have specialized centers for separate form of the diseases: neuromuscular diseases, phenylketonuria etc. Functioning and specialized centre of expertise for phenylketonuria, mucopolysaccharidosis, neuromuscular diseases and chromosomal syndromes is the Republic Centre of Medical Genetics. Joint Medical Center & Institute of Child and Adolescent Health provide monitoring and treatment of Hypothireodism and other Rare diseases.

7 Prevention of rare diseases Prescribing of the folic acid to all pregnant woman. Ultrasound screening all pregnant woman. Governmental program of neonatal screening on PKU. Governmental program of neonatal screening on congenital hypothyroidism. Prenatal diagnosis of some metabolic diseases, chromosomal syndromes and malformations. Medical Genetic Consulting.

8 Available orphan drugs in the country In 2008 the Ministry of Health approval The list of vital important drugs where are included 83 drugs. Patients with congenital hypothyroidism, cystic fibrosis are provided with drugs, patient with PKU - with special mixes. At the present time we support list of orphan drugs for treatment patients with mucopolysaccharidosis. We are planning to: Prepare and enlarge List of Orphan drugs for registration by the Ministry of Health. Assist introduction and providing diet food for patients with RD (phenylketonuria). Collaborate with pharmaceutical industry for providing patients with RD by Orphan drugs. Collaborate with International centres and organizations.

9 Rare diseases patient organizations... At the present time in republic actively work: Neurohereditary Diseases Association (created in1992) Hemophilia Association (created in 2000) Alzheimer s disease Association (created in 2002) After I South Caucasian conference was organized Armenian Alliance of Rare Diseases (created in 2010) And now we enlarge our Alliance and begin involving new organizations. We suggest to be Honor president of this Alliance, of Chairman of the parliament commission on the issues of health care, director of Institute child and adolescent prof. Babloyan A.,which has given one's consent.

10 Aim of National Plan for rare diseases (preliminary project) The aim of the program is to create a uniform national health policy, ensuring the citizens of Republic of Armenia with prevention, timely diagnosis, adequate treatment and rehabilitation of rare diseases.

11 Priorities (preliminary project) Institutional framework and mechanisms Epidemiological data Newborn screening Treatment Orphan Drugs Training of medical students and doctors Scientific work and research National awareness campaign Support of patient associations Collaboration with other EU member states National network of Rare Diseases Creatad moderm laboratory basis

12 National plan on rare diseases in Armenia Information and Education. (Previously project) Detection, diagnosis and registration RD, creation of National database and registers for RD. Enlarge newborn screening on PKU, congenital hypothyroidism and other disorders all over Republic. Creation of National list of Orphan drugs. Providing to patients with RD new treatment methods and Orphan drugs. Creation Center Expertise and rehabilitation centers for Neuromuscular and metabolic diseases. Activity on enlarge of number of patients organization. Creation the Information communication network on RD. In focus of the Program: PKU, congenital hypothyroidism, cystic fibrosis, mucopolysaccharidosis, neuromuscular and neurodegenerative disease, Prader- Willi syndrome, and other RD. The Annual Conference on program National plan strategy of RD. The program is planned for 10 years.

13 How EUROPLAN can support us? Help in the methodology of research, unification and standardization by creation of the database and registers RD. Providing information materials. Exchange of experience of participants of the project of EUROPLAN. To help with the organization of trainings and meeting with our doctors and patients representatives. Informing and acquaintance government agencies and bodies of public health services of our republic about the EUROPLAN, and European Union initiatives, realization of National plans on RD. Looking up foundation, grants and opportunity for financing research and realization of our project.

14 28 February - Rare Diseases Day

15 28 February - Rare Diseases Day

16 Thank you for collaboration and participation in EUROPLAN team!

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