Saturday July 30th, 2016

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Register for rare diseases

What is a patient registry?

The term “Patient Registry” is defined as “a framework for collecting and analyzing data on a specific disease in order to cover the entire patient population in a country that is affected of that disease”.

Why is the rare disease registry important?

The rare disease registry is a census of diagnosed cases of rare diseases in a population.

The registration of rare diseases is a process of systematic collection and analysis of data on people with rare diseases, in order to provide a more accurate insight in the number of people suffering from rare diseases, and the number of rare diseases from which they are suffering.

Why is the rare disease registry useful?

The role of the registry is to enable:

  • Calculation of incidence of rare diseases by age, sex, place, diagnosis etc.
  • Continuous tracking of incidence over time
  • Analysis of survival rate of patients with rare diseases
  • Calculation of lost years of life, and years of life with disability
  • Determining direct and indirect cost of treating patients with rare diseases (caused by temporary or permanent disability or premature death)
  • This way of observing and monitoring patients with rare diseases is quite significant because it provides:
  • Expert approach in planning health management of rare diseases.
  • Development of a prevention program and preventive strategies (public information, health education, early detection, screening, reduction of complications in rare diseases)
  • Evaluation of implemented preventive measures
  • Formulation of a health policy and promotion of the organization of health care for patients with rare diseases
  • Assessment of the burden on society arising from rare diseases
  • An initial basis for epidemiological and clinical research

Some of the key benefits of a well-maintained registry would be:

  • The possibility of monitoring and improving the quality of care for patients with rare diseases;
  • Better implementation of a multidisciplinary approach to management of rare diseases;
  • Speeding up the daily clinical practice of healthcare workers and making clinical decisions;
  • Better planning of financial resources for the procurement of medicines for rare diseases;
  • Prevention planning and screening for rare diseases;
  • Monitoring the effectiveness of treatment for rare diseases;
  • More efficient use of health resources and
  • Providing a base for clinical research.

What is the current situation in Macedonia?

At this moment, there are no accurate statistics regarding data on rare diseases and the number of patients, but the registry for rare diseases began to develop in 2015, and patients are entered into the registry that is located at the Ministry of Health. There is also a special Program for Rare Diseases through which funds are allocated for the purchase of appropriate treatment for rare diseases, diagnosis (if diagnosing is not possible in Macedonia), and education of professional staff.

Prior to entering the data into the registry, it is taken and considered by an expert committee for rare diseases composed of health professionals from clinical centers (with a different field of expertise).

The exact financial implications of treating rare diseases cannot yet be examined.

Also, apart from the Ministry of Health, one part of the patients with rare diseases receives some of the necessary medicines, orthopedic aids, special nutrition, etc. from the Health Insurance Fund of Republic of North Macedonia. Another part of the patients with rare diseases receives medicines that are procured through the University Clinics in Skopje and are not registered in the register in the Ministry of Health. That is why it is necessary for the Ministry of Health to cooperate closely with the Health Insurance Fund, with the University Clinics, and with patient associations to ensure adequate care and treatment for patients with rare diseases.

In addition, cooperation with the Ministry of Labor and Social Policy is needed to implement appropriate measures of a social nature (appropriate assistance) so that patients with rare diseases are not excluded from social policy.

Certainly, the cooperation with health professionals and with the Macedonian Academy of Sciences and Arts, in terms of early diagnosis, appropriate information for patients and availability of early treatment is also important.


Why is it difficult to make this registry?

  • The natural course of many rare diseases is unknown, and many of them remain undiagnosed, therefore cannot be entered in the registry.
  • In the International Classification of Diseases, which is used for many diseases, there aren’t adequate codes. Because of that, many rare diseases remain unrecognized in the health care system.

What data is in the registry?

  • Data on the health facility where the diagnosis was made, or where the treatment for the rare disease is implemented
  • Data on the affected person (name, surname, social security number, date of birth, place of birth and place of residence, gender) in accordance of the law on protection of personal data
  • Data about the disease (appearance of symptoms, diagnosis, status, code, name of the disease)
  • Data on the clinical/laboratory findings (currently there is no such data in the registry)
  • Data on the treatment (whether there is a drug, name of the drug, treatment evaluation, primary, secondary, tertiary treatment, symptomatic treatment)
  • Data on the outcome of the disease (time and date of death)

What needs to be done as a priority?

  • To create an electronic version of the registry for rare diseases
  • To introduce new data items that will be collected in the registry
  • To enable easier access to analysis of data from the registry in anonymized form in order to create adequate policies based on facts to improve the quality of life of families with rare diseases
  • To enable the entry of data from family doctors, subspecialists and specialists who do not manage the patient, but monitor and consult about certain symptoms that result from the rare disease
  • To connect data from all health and social institutions where the patient’s illness is monitored and controlled (including physical therapy, psychologist, special education specialist, speech therapist, social assistance, disability assistance, etc.)
  • To further enable the input of data from patients (or their parent guardian) in order to collect and analyze data directly from patients regarding their physical and mental condition

Program for rare diseases of the Ministry of Health

The first program for rare diseases at the Ministry of health is from the year 2009 and it included 3 patients with MPS 2 – Hunter syndrome

Програма за ретки болести 2009 година – Program for 2009 in Macedonian language

There were no further changes until 2015 .

  1. Program for 2012  –   Програма за лекување на ретки болести во РМ за 2012 година – in Macedonian language
  2. Program for 2013  –   PROGRAMA ZA LEKUVAWE NA RETKI BOLESTI VO REPUBLIKA MAKEDONIJA ZA 2013 GODINA – in Macedonian language
  3. Program for 20126 –    Programa za lekuvanje na retki bolesti vo R.M. za 2016 – in Macedonian language

For the first time in 2016 there are finances for diagnosis and education.


Campaign for raising awareness on rare diseases in cooperation with the Association of Doctors in general family medicine. 

Posters and flyers in Macedonian and Albanian languages.

Flyers in Macedonian langauge

Flyers in Albanian langauge

Posters in Macedonian langauge

Posters in Albanian langauge


This document is a translation from the EURORDIS document – 

This document is a translation from the EURORDIS document on Equity for rare diseases –

This document is a translation from the EURORDIS position paper on newborn screening.  ( ):

Informative brochure – LIFE WITH CHALLENGES – 2020 – Macedonian language

Regional cooperation

How did we start?

Our organization is founded with the help and support by the National Alliance of people with rare diseases of Bulgaria. The first meeting of families and doctors connected to rare diseases in Macedonia was organized by Bulgaria in Ohrid, Macedonia, in June, 2009.
Since than the patients in Macedonia decided to form their own organization and fight for their rights. This is how Life With Challenges was born.
In the next 3 years we were gathering members and learning how to manage and grow into a strong patient organization.
prv sostanok
Why cooperation?
  • Sharing knowledge in patient advocacy.
  • Sharing tools and best practices with patient organizations.
  • Learning how other organizations in the world accomplish their goals.
  • Getting support in policy development.
  • Getting support and new ideas for activities about raising public and institutional awareness about the problems and challenges of the patients and families.
  • Access to workshops, meetings, seminars and training on subjects important for development of strong patient advocates.
  • Access to new information of research and development of new medicines, new policies and new ways to help and support patients

Meetings for development of regional and international cooperation:

Second regional meeting of Gaucher patients and first regional meeting for lysosomal diseases  Sarajevo, Bosnia and Herzegovina,  5-7 April, 2013


Second Balkan Conference for rare diseases – “Better communication – better treatment“, 20 – 22 April, 2013, Sofia, Bulgaria


EURORDIS Membership Meeting, May, 2013, Dubrovnik, Croatia


Patient Meeting Bulgaria – Macedonia, Skopje, 7 September, 2013

bg mk

Congress for rare diseases in South-East Europe, Skopje, Macedonia, 16 November, 2013


NORBS – National Plan Conference, Belgrade, Serbia, 5-7 December, 2013


DITA Task Force Meeting (Drug Information, Transparency and Access), London, UK, 8-10 December, 2013


EUPATI – European patients academy on therapeutic innovation – 2014 – 2015


European Federation of Neurological Associations training course on Pharmaceutical policy, pricing and reimbursement, at London Schools of Economics and political science, 13th to 14th of May, 2014, London, UK


EUnetHTA Training course and conference – HTA 2.0 Europe, Teaming up for value, 29th to 31st of October, 2014, Rome, Italy


EURORDIS Membership meeting, 8th of May, 2014, Berlin, Germany

germanija eurordis

Bulgaria – Macedonia Meeting, Kustendil, Bulgaria, 1-3 May, 2015

bg kustendil

Partners for Progress: Patient advocacy in a changing environment, Lisbon, Portugal, 30 June – 1 July, 2015


The National Alliance for Rare Diseases of R. Macedonia – NARDM

12 organizations are founders of this alliance, in 2014 and we are open to new members that want to join our efforts in providing better quality of life for families that face life with a rare disease.
  • Our vision is providing best possible quality of life for people that face life with a rare disease.
  • Our mission is promoting the principles of equality, solidarity, non- discrimination, information and protection of rights of people with rare diseases in R. Macedonia and internationally.
  • Today NARDM has 13 organizations as members: Association of citizens for rare diseases LIFE WITH CHALLENGES, Bleeding disorder society of R. Macedonia – HEMOLOG, Association for Hereditary Angioedema – HAE Macedonia, Association for rare neurological diseases in children – Kokicnija, Association for hemophilia, Non Government Organization for Rheumatism and Arthritis – NORA, Association for Wilson Disease, Association for Emancipation, Solidarity and Equality of Women – ESE, Association for Pulmonary Hypertension – MOMENT PLUS, Association of citizens for Down Syndrome – Trisomy 21, Association for people with dysfunction, handicap, rare diseases and special needs – Dajte ni krilja, Macedonian Association for Chron and Ulcerative Colitis – MAKUK, Association of citizens for motivation and happier, more productive life of people with physical and mental disabilities – Nova Iskra.
EURORDIS Membership Meeting, Madrid, Spain, 29 – 30 May, 2015

European Gaucher Alliance Membership meeting, 28.06.-02.07.2016

The EGA is delighted to announce that during its Biennial General Meeting in Zaragoza on 29 June, its members expressed their wish to amend the founding constitution by abolishing the differentiation between full and associate membership. With a voting result of 69% in favour of providing full rights to non-European member associations, the majority of the members expressed their clear wish that the EGA becomes a global group.
On 29 June, Pascal Niemeyer was elected by the new board of the European Gaucher Alliance as chairman. Pascal has been working on the board since 2008 and is responsible for the areas of public relations and liaison with the EWGGD. Pascal takes over from Jeremy Manuel, who decided to step down as chairman to make way for the next generation, whilst assuring his dedication to continue to support the Gaucher community by agreeing to remain on the board.
The entire board would like to thank Jeremy for his tireless engagement in building and developing the EGA for more than 20 years.
The new board was formally announced as: Vesna Aleksovska (Macedonia), Biljana Jovanovic (Serbia), Anne-Grethe Lauridsen (Denmark), Jeremy Manuel (UK); Pascal Niemeyer, Chair (Germany), Johanna Parkkinen (Finland), Jasenka Wagner (Croatia), Sandra Zariņa (Latvia), Irena Žnidar (Slovenia).
Some very interesting discussions took place during the biennial meeting. Workshops where participants were split into four groups facilitated by board members. To inspire the discussion a short introduction was given on possible subjects to discuss, based on the information given in your Country Reports which were sent in ahead of the meeting.
The board has now evaluated all the written feedback from each groups and split the issues raised into the following 3 areas:

• How to get a diagnosis, switching treatment, treatment or no treatment, social aspects of GD
• Running an association; why and how
• Creating awareness towards different target groups
Looking deeper into the feedback, the overall theme identified was “Awareness” and so it was decided that a small group within the board should look at what this means on different levels. Based on this work the group will identify possible new projects to propose to the full board at the next meeting in January.


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