**4. The knowledge and attitudes of physicians and clinical pharmacists regarding pharmacotherapy of rare diseases in Serbia: a pilot study**

In Serbia, clinical trials in the field of rare diseases are extremely rare and mainly relate to rare oncological diseases.

We considered that it would be important to examine the attitudes and knowledge of physicians and clinical pharmacists regarding the pharmacotherapy of rare diseases in Serbia. An anonymous pilot survey entitled "Attitudes of Physicians and Pharmacists Regarding Pharmacotherapy of rare diseases in Serbia" was designed and conducted by employees of the Department of Pharmacology, Clinical Pharmacology and Toxicology in a selected sample of subjects (N = 11, Internal Medicine Clinic and Central Pharmacy, KBC "Bezanijska Kosa" in Belgrade). The survey consisted of both open- and closed-ended questions. The attitudes of medical professionals were assessed by the 10-point Likert scale. The total response rate was 97.2%.

#### **4.1 Physicians' and pharmacists' knowledge and attitudes concerning rare diseases: results**

Our respondents found that the greatest problems of patients suffering from rare diseases in our environment are: lack of scientific knowledge (23%), complicated procedures for the procurement of drugs (21%), the lack of a sufficient number of registered medicines for these diseases (14%), etc. Although our examinees considered this issue as highly important in our country (on a scale of 0–10, our respondents gave an average score of 9), the majority of them (64%) assessed they were not sufficiently familiar with the existing legislation. According to our respondents, the treatment of patients with rare diseases in our environment can be improved: by forming a National Strategy for RDs (23%), raising general and professional awareness (20%), by creating a register of patients with rare diseases (20%), etc.

## **5. The knowledge and attitudes of patients suffering from rare diseases in Serbia**

In the next part of our investigation, we performed a cross-sectional study for 5 weeks on outpatients and inpatients (Neurology Clinic, Department for Neuromuscular Disorders, Clinical Center of Serbia) who suffered from rare neurological diseases.

The anonymous questionnaire concerning the knowledge and attitudes of rare diseases and its pharmacotherapy was completed by a total of 60 patients (39 were male and 21 were female). The questionnaire consisted of both open- and closedended questions, and patients' attitudes were assessed by the 10-point Likert scale.

All of our respondents suffered from different neurological diseases (myasthenia gravis, myotonic dystrophy, polyneuropathy, multiple sclerosis, syringomyelia, amyotrophic lateral sclerosis, etc.). The total response rate was 95.83%.

#### **5.1 Patients' knowledge and attitudes concerning rare diseases: results**

This part of our survey showed that slightly more than a third of participants knew the exact prevalence and definition of rare diseases in Europe. Although more than 70% of patients answered they knew what kind of disease is defined as "rare," only half of the participants believed that they suffered from rare disease.

Our respondents found that dealing with this issue in our community is very important (median value: 9; interquartile range: 8–10), while availability of "orphan drugs" is still poor (median value: 2; interquartile range: 1–6).

The most important problems faced by patients suffering from rare diseases in Serbia include: lack of public and scientific knowledge (21.83% and 14.78%), insufficient number and cost of orphan drugs (14.08%), legislative obstacles (12.67%), delay in diagnosis and misdiagnosis (12.67%), etc.

It should be pointed out that only 16.6% of examined patients were part of some rare diseases patients' organizations and just a quarter of our respondents (26.6%) agreed to participate in clinical trials concerning orphan drugs.

According to our participants, the availability of drugs for RDs could be enhanced by the efforts of: the state (55%), medical doctors (30%), pharmaceutical companies and pharmacies (10%), rare diseases patients' organizations (3.33%), etc.

Finally, in order to improve the pharmacotherapy of RDs in our country, the examined participants suggested the following: well-timed diagnostics (25.78%), progress of the general awareness regarding this topic (22.64%), clarified orphan drug approval processes (16.9%), registration of more RDs drugs (11.3%), creating a RDs patients' register (7.6%), forming a National Strategy for RDs (6.2%), full implementation of legislation (4.7%), adequate control of orphan drugs available in private pharmacies in Serbia (4.25%), etc.
