What are rare diseases?

Rare diseases are a very heterogeneous group of diseases whose common feature is that they individually affect a small number of patients, but together they form a group of about 7,000 different diseases. According to the definition of the European Commission, a rare disease means any disease that occurs in less than 5 people per 10,000 people. They are often chronic, progressive, degenerative, life-threatening and a large percentage of them cause disability. In 50% of people, the first symptoms of the disease appear already in early childhood. 30% of children with a rare disease do not live to see their 5th birthday. Only 5% of rare diseases have a registered therapy.

How do rare diseases occur?

Most rare diseases are genetically inherited (about 80%). They appear immediately after birth or in early childhood.

Some genetic conditions are caused by entirely new mutations that arise in an individual. These are called spontaneous mutations.

If they are not hereditary, then they are the result of infections, allergies or the influence of environmental factors.

What are the Centers for Rare Diseases?

These are health institutions or parts of health institutions that provide appropriate care to those suffering from rare diseases. Centers for rare diseases are healthcare institutions at the tertiary level that perform tasks related to a certain type of rare diseases (Article 92a of the Law on Health Care): diagnosis of patients with rare diseases, prenatal and neonatal screening, genetic counseling, treatment of patients with rare diseases, keeping registers patients with rare diseases, cooperation with reference foreign centers for diagnosis and treatment of rare diseases, as well as with the network of European and world organizations for rare diseases, continuous education in the field of rare diseases.

There are 6 centers in Serbia: Clinical Center of Serbia, Institute for Pulmonary Diseases of Vojvodina, University Children’s Clinic Belgrade, Institute for Health Protection of Mother and Child Belgrade, Institute for Health Protection of Children and Youth Vojvodina Novi Sad, Clinic for Neurology and Psychiatry for Children and Youth Novi Sad.

Is there a register or some record of patients suffering from rare diseases in Serbia?

In the Republic of Serbia, there is such a register in which data are entered on the number, type, diagnosed and treated patients suffering from rare diseases. Healthcare institutions are obliged to submit this data to centers for rare diseases. In practice, for now, it has not fully taken off, because the data are not filled in continuously and in a timely manner by the centers for rare diseases.

Where can I find information about certain rear diseases?

Rare Diseases Databasei is a website in the Serbian language where you can find all relevant data on rare diseases, which was modeled after European Orphanet. These data refer to information on diseases, clinical research, data on rare disease associations as well as data on medical institutions dealing with rare diseases.

In what ways are patients in Serbia informed about clinical studies for their disease and who decides whether a patient should participate in clinical trials?

Doctors in the Centers for Rare Diseases should provide information about clinical studies, but in practice it has been shown that very often the organizations or patient associations themselves inform patients about available clinical studies for certain diseases. Participation in clinical trials is voluntary and no one should decide for the patient. All available clinical studies can be found on the portal

What if your doctor suggests you participate in a clinical trial?

The doctor has the obligation to provide written information about the study (informed consent). The patient has the right to take it home, read it alone or consult with someone. The text of the informed consent was approved by the Ethics Committee and the appropriate body of the Ministry of Health. The patient has the right and should ask anything that is not clear to him before signing the informed consent.

What is informed consent and is the patient, once he has signed the informed consent, obliged to fully participate in clinical research?

Informed consent is the patient’s consent to participate in clinical trials after all details and concerns about the study have been explained in detail. The patient has the right to withdraw at any moment without any consequences for his further treatment.

Didn’t find what you were looking for?

Contact us and help us help others by answering your question, expanding our knowledge base and providing easy access to information for others.

Ask a question

12 + 4 =

Want to learn more about rare diseases?

Search our Rare Disease Database (opens in a new window).