Orphan diseases

GCT has experience in performing several clinical trials in rare diseases (see some examples in the table below). We are closely familiar with key opinion leaders in each therapeutic area, as well as experienced investigative sites and patient organizations, and will gladly apply this knowledge to assure the successful completion of your planned clinical program.

Phase# Pnts# SitesCountriesIndicationSponsor
II204RussiaImmune Thrombocytopenic Purpura (ITP)EU biotech
III46UkraineImmune Thrombocytopenic Purpura (ITP)EU biotech
III403RussiaWegener GranulomatosisEU pharma
I/II51RussiaFabry DiseaseIsraeli biotech
I11RussiaCongenital Fibrinogen DeficiencyEU Pharma

From a regulatory perspective, in the US a disease is considered to be rare if there are less than 200 000 patients suffering from it in the whole country. EU defines a disease as rare, if it affects no more than 5 in 10 000 of the general population.

The European Organization for Rare Diseases (EURORDIS) estimates that there are almost 7,000 distinct rare diseases, and as much as 6% to 8% of the population of the European Union is affected by one. Only about 400 rare diseases have therapies and about 80% have a genetic component according to Rare Genomics Institute.

The field of R&D for orphan indications is characterized by a number of challenges. One of the problems is that there is often little known about the pathophysiology of rare diseases and this fact makes designing clinical development programs even more complex due to the uncertainty of disease mechanisms, a lack of preclinical models of disease and incomplete information on disease biomarkers. Possible solutions include conducting natural history studies that can provide important data, actively engaging with patient organizations which are one of the core information sources about a disease and patients, and communicating with the relatively few physicians and KOLs involved in the research on a certain indication.

The most obvious challenge for rare disease clinical research is a small number of patients available. A typical orphan drug trial includes many sites across multiple countries with a very few patients enrolled at each investigative site. It makes such trials very expensive as the fixed cost for setting up a lot of sites is distributed over few patients. Recruitment delays also cause major cost escalation. Comparability studies, usual for common diseases, are especially difficult to implement due to the lack of patients, and even more so due to the minimal number of treatment-naïve patients.

Russia and CEE is a most favourable region to place orphan drug trials with a total population of around 220 mln people. The quality of clinical research data coming from Russia and CEE region is comparatively high. For example, the percentage of FDA/EMA approved drugs studied within international clinical trials placed in part in Russia is increasing (21% in 2012, 60% in 2013, 50% in 2014, and 62% in 2015)). As per the EMA report, Russia is among five top-enrolling countries in clinical research worldwide. Moreover, including Russia into your clinical study, you escape the need to conduct local registration clinical studies in future and save time and costs to launch to the Russian market!


In Russia, a disease is considered to be orphan if there are not more than 10 cases per 100 000 population. There is a list of 24 orphan disease groups and their treatment must be covered by the regional budgets. This list only includes the diseases which are well characterized from the clinical viewpoint, and the treatment for which is marketed in Russia. As a result, that leaves out a huge number of rare diseases, and the patients suffering from them are in great need of any available treatment, including participation in clinical trials.

Number of rare diseases patients in regional registries (per 100 000): growth dynamics from 2013 till 2016

According to the official statistics gathered from regions of the Russian Federation by the EEC Institute Center for research and analysis of the population, demographics and healthcare, the total number of patients suffering from orphan diseases has increased from year 2013 to 2016 by 63,31%. Such growth dynamics shows not excess incidence, but rather better rare disease diagnostics. However, it has to be noted that many regions still lack a system of maintaining a regional rare disease patients registry, therefore the overall data may be far from reality. Patient organizations and epidemiological data from scientific papers show much higher incidence rates for certain orphan indications.


The Ukrainian legislation defines orphan disease the same as the EU: 1 case in 2000. According to general statistics, around 50% of orphan diseases lead to disability. More than 70% affect children, among whom 30% die before their fifth birthday. Combined with the lack of drugs for such indications, the threat of rare diseases cannot be underestimated.
Patients’ organizations are becoming more and more active in Ukraine. Some of them – such as the Ukrainian Union of Patients’ Organisations, the Ukrainian National charitable fund ZAPORUKA, etc – are members of the EURORDIS. In November 2013 the First National Congress for Rare Diseases was held in Kharkiv to discuss the day-to-day realities and perspectives of fighting rare diseases. As one of the results, in April 2014 the Ukrainian government has adopted an amendment to the Basics of healthcare legislation guaranteeing that it will provide free preventive measures and treatment to rare disease patients starting from year 2015. However, first a list of rare diseases has to be established, and while this may take some time, hundreds of patients lack treatment.

Eastern Europe – Bulgaria and Romania

The Rare Diseases Task Force Working Group recognizes a disease as orphan when it affects not more than 1 in 2000 of EU citizens. If we take the whole EU population of 459 mln people, that means more than 230 000 affected individuals. In Bulgaria with its population of 7.5 mln people, the rare diseases patient population is around 450 000 people. In Romania approximately 1 300 000 people suffer from rare diseases out of 21.3 mln total population.

EUROPLAN project is in progress in EU: it is built to provide technical support for developing and implementing national plans/strategies on Rare Diseases in EU Member States, EFTA/EEA and non-EU countries. Integrated, comprehensive, long-term strategy will be proposed in the framework of principles and guidelines of the key policy documents. Romania and Bulgaria have already adopted national plans on rare disease.

Orphan medicinal product market availability situation (according to EUCERD reports): By the end of 2012, 24 orphan medicinal products with EMA market authorization are priced and included in the list for reimbursement in Bulgaria. 15 of them are reimbursed by NHIF and 9 – by the respective hospital budget. The list of orphan medicinal products available/commercialized in Romania and free of charge through the National Health Programme is available on the website of the Romanian National Medicines’ Agency and includes 47 products.

More information

We will be happy to provide more information about Orphan diseases studies in CEE and Russia. Please contact us or simply use the form below. A representative will respond shortly.

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