List of rare diseases in Bulgaria

Eleonora Hristova, Ralitsa Raycheva, Georgi Iskrov, Rumen Stefanov


Defining and setting a rare disease inventory is a fundamental part of rare disease policy. This tool is of a paramount importance, as it greatly affects the knowledge and awareness of rare diseases not only among health care practitioners, but among all rare disease stakeholders. An official list of rare diseases is particularly beneficial now in the context of the European reference networks for rare diseases, generating added value at both international and local levels.

In this publication, we demonstrate and analyse the establishment of the List of Rare Diseases in Bulgaria. The Bulgarian experience is a result of a decade-long international collaboration within EU bodies like the Rare Diseases Task Force and the EU Committee of Experts on Rare Diseases, as well as participation in major EU projects, such as RD-Portal (Orphanet), EUROPLAN, EPIRARE, BURQOL-RD, RARE-Bestpractices and RD-Action. Bulgarian rare disease stakeholders applied a transparent, proactive methodology when defining and setting the List. This is a substantial prerequisite for the successful implementation of all ongoing rare disease activities in the country. The described approach could be easily adapted and used in other countries.


rare diseases, health policy, centres of expertise, registries, list of rare diseases

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Ministry of Health. Ordinance № 16 of 30 July 2014 on the terms and conditions for registration of rare diseases and on the centres of expertise and reference networks for rare diseases. State Gazette 67 of 12 August 2014.

Last accessed on 29 November 2016

Hristova E, Iskrov G, Stefanov R. New horizons for centres of expertise for rare diseases in Bulgaria. Rare Dis Orphan Drugs Int J Public Health. 2014;1(4):116-20.

Montserrat Moliner A, Waligóra J. The European Union policy in the field of rare diseases. Public Health Genomics. 2013;16(6):268–77.

Ministry of Health. [Regulation of the establishment of the national network for rare diseases and exemption from participation in the costs related to health services, in accordance with art. 5, paragraph 1, letter b of Legislative Decree no. 124/98.][in Italian]

Rodwell C, Aymé S, eds. 2014 Report on the State of the Art of Rare Disease Activities in Europe, July 2014.

Last accessed on 29 November 2016

Ministry of Health. Order RD-01-277 of 25 November 2015.

Last accessed on 29 November 2016

Ministry of Health. Order RD-01-92 of 30 March 2016

Last accessed on 29 November 2016

National Centre of Public Health and Analyses. Commission on Rare Diseases.〈=bg

Last accessed on 29 November 2016

Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E. National registries of rare diseases in Europe: an overview of the current situation and experiences. Public health genomics. 2014 Sep 9;18(1):20-5.

Ferrelli RM, De Santis M, Gentile AE, Taruscio D. Exploring the usability of EUCERD core indicators for rare diseases. Annali dell'Istituto Superiore di Sanità. 2015 Dec;51(4):342-5.

List of rare diseases and synonyms listed in alphabetical order. Orphanet Report Series, Rare Diseases collection, March 2016.

Last accessed on 29 November 2016

Ministry of Health. Ordinance № 38 of 16 November 2004 establishing the list of conditions whose outpatient medicinal treatment, medical devices and special nutrition are fully or partially paid by the National Health Insurance Fund. State Gazette 106 of 3 December 2004.

Last accessed on 29 November 2016

Iskrov G, Jessop E, Miteva-Katrandzhieva T, Stefanov R. Budget impact of rare diseases: proposal for a theoretical framework based on evidence from Bulgaria. Georgian medical news. 2015 May(242):46-53.

Logviss K, Krievins D, Purvina S.Impact of orphan drugs on Latvian budget. Orphanet J Rare Dis. 2016 May 11;11(1):59.

Miteva-Katrandzhieva T, Iskrov G, Stefanov R, Naumova E, Guergueltcheva V, Savov A. Overview of epidemiological rare diseases registries in Bulgaria. Rare Dis Orphan Drugs Int J Public Health. 2016;3(1):11-5.

Prevalence of rare diseases: Bibliographic data, Orphanet Report Series, Rare Diseases collection, March 2016, Number 1 : Diseases listed in alphabetical order.

Last accessed on 29 November 2016

Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare. Official Journal of the European Union L 88/45, 4 April 2011.

Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D. Improving the informed consent process in international collaborative rare disease research: effective consent for effective research. Eur J Hum Genet. 2016 Aug;24(9):1248-54.

Kodra Y, Kondili LA, Ferraroni A, Serra MA, Caretto F, Ricci MA, Taruscio D. Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome. Ann Ist Super Sanita. 2016 Jul-Sep;52(3):428-433.

Polizzi A, Balsamo A, Bal MO, Taruscio D. Rare diseases research and practice. Endocr Dev. 2014;27:234-56.

Kanters TA, Steenhoek A, Hakkaart L.Orphan drugs expenditure in the Netherlands in the period 2006-2012. Orphanet J Rare Dis. 2014 Oct 11;9:154.

Sandrucci S, Gatta G, Trama A, Dei Tos AP, Casali PG. Specialized teams or specialist networks for rare cancers?. Eur J Surg Oncol. 2015 Sep 1;41(9):1115-7.

Mallone S, De Angelis R, van der Zwan JM, Trama A, Siesling S, Gatta G, Capocaccia R; RARECARE WG. Methodological aspects of estimating rare cancer prevalence in Europe: the experience of the RARECARE project. Cancer Epidemiol. 2013 Dec;37(6):850-6.

Vozikis A1, Cooper DN, Mitropoulou C, Kambouris ME, Brand A, Dolzan V, Fortina P, Innocenti F, Lee MT, Leyens L, Macek M Jr, Al-Mulla F, Prainsack B, Squassina A, Taruscio D, van Schaik RH, Vayena E, Williams MS, Patrinos GP. Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy. Public Health Genomics. 2016 Sep 28. [Epub ahead of print]