Albert Matevosyan MD,PhD
“Neurohereditary Diseases” Charity Association
Head of Republic Center of Medical Genetic and Department
of Medical Genetic Yerevan State Medical University
Istituto Superiore di Sanità
Rome
(Italy) FINAL CONFERENCE Rome, Italy - February 25, 2011
EUROPLAN
ARMENIA
Information about rare diseases
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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).
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Phenylketonuria (57 patients - database of RCMG).
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Congenital Hypothyroidism (36 patients - database of MC “Arabkir”).
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Mucopolysaccharidosis (14 patients - database of RCMG).
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Cystic Fibrosis (30 patients - database of RUCM).
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Williams Syndrome (5 patients - database of RCMG).
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Congenital malformations (120 patients - database of RCMCHP).
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Chromosomal syndromes (more 220 patients - database ACAG).
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Mediterranean fever (for Armenia it’s not Rare disease) 2-3:1000
people.
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Other forms of rare diseases - described more than 60 forms.
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
Education about rare diseases
 Annual scientific conferences and seminars for practical doctors of
Yerevan and republic rsegions(from 5 to 12 meetings per year).
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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)
 Constant informational work with parents of patients, involving them
into creation of the patient organizations.
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
Diagnostics of rare diseases
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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).
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
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
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
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.
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
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.
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
Available orphan drugs in the country
 In 2008 the Ministry of Health approval “The list of vital important
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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.
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
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.
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
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.
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
Priorities
(preliminary project)
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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
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
National plan on rare diseases in Armenia
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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, PraderWilli syndrome, and other RD.
The Annual Conference on program National plan strategy of RD.
The program is planned for 10 years.
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
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.
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
28 February - Rare Dis e as e s
Day
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
28 February - Rare Dis e as e s Day
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA
Thank you for
collaboration and
participation
in EUROPLAN team !
Istituto Superiore di Sanità
Rome (Italy)
ARMENIA