ARMENIA. Albert Matevosyan MD,PhD

Albert Matevosyan MD,PhD

“Neurohereditary Diseases” Charity Association

Head of Republic Center of Medical Genetic and Department of Medical Genetic Yerevan State Medical University

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Information about rare diseases

 Neuromuscular and neurodegenerative diseases (myodystrophy, spinal and neural amyotrophy, myotonia, hereditary ataxia and

subcortical degeneration), more than 45 types - 836 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.

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: www.nhd-mda.am.

 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)

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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).

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

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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.

Prevention of rare diseases

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Prescribing of the folic acid to all pregnant woman.

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Ultrasound screening all pregnant woman.

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Governmental program of neonatal screening on PKU.

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Governmental program of neonatal screening

on congenital hypothyroidism.

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Prenatal diagnosis of some metabolic diseases,

chromosomal syndromes and malformations.

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Available orphan drugs in the country

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We are planning to:

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Rare diseases patient organizations ...

At the present time in republic actively work:

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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.

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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

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  

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National plan on rare diseases in Armenia

(Previously project)

 Information and Education.

 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.

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}

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28 February - Rare Diseases

Day

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Thank you for

collaboration and

participation

in EUROPLAN team !