Pročitajte ovu stranicu na hrvatskom (Read this page in Croatian)
The Croatian Society for Rare Diseases, made up of healthcare professionals, was established in 2008 within the Croatian Medical Association. At the initiative of this Society in 2010, the Ministry of Health launched a systematic approach to address the issues faced by people living with a rare disease.
A National Commission for Rare Diseases was created to develop the first Croatian national programme for rare diseases. The then President of Rare Diseases Croatia (National Alliance), Vlasta Zmazek, was a member of the Commission to voice patients’ and caregivers’ perspectives and expectations.
In 2015, the National Programme for Rare Diseases 2015–2020 was adopted. The programme encompassed nine strategic areas of activity:
- Improving knowledge and access to information about rare diseases.
- Supporting the development of rare disease registries and ensuring their long-term funding.
- Supporting the work and development of the network of reference centres and relevant scientific organisations.
- Improving access to, and the quality of, healthcare (diagnosis, treatment, and prevention) for patients with rare diseases.
- Ensuring the availability of medicines.
- Improving the realisation of rights within the social welfare system for people living with rare diseases.
- Empowering rare disease patient organisations.
- Encouraging scientific research.
- Promoting international networking and cooperation in the area of rare diseases.
In 2023, a new National Commission for Rare Diseases was established with the aim of drafting and monitoring a new National Programme, which is expected to be adopted during 2025. The President of Rare Diseases Croatia, Sara Bajlo, is a member of the Commission and actively involved in the co-creation of this new programme.
Key highlights of the Rare Disease Strategy of the Republic of Croatia (2015-2020)
Reliable information
Information about rare diseases in Croatia is available on the website of Rare Diseases Croatia (www.rijetke-bolesti.com) and on the websites of various patient associations related to rare diseases. Reference centres also provide information about rare diseases.
Expert advice
Currently, there are nine reference centres for rare diseases in the Republic of Croatia:
University Hospital Centre, Zagreb:
- Reference Centre for Medical Genetics and Metabolic Diseases in Children
- Reference Centre for Neuromuscular Diseases and Clinical Electromyoneurography
- Reference Centre for Paediatric Neuromuscular Diseases
- Reference Centre for Inherited and Acquired Bullous Dermatoses
- Reference Centre for Rare and Metabolic Diseases
- Reference Centre for Movement Disorders and Heredodegenerative Diseases
University Hospital Centre Sestre Milosrdnice, Zagreb:
- Reference Centre for Genetic Eye Diseases
- Reference Centre for Solid Tumours in Childhood
Children’s Hospital, Zagreb:
- Reference Centre for Monitoring Congenital Anomalies
National rare disease healthcare pathways
The diagnosis of rare diseases in Croatia faces challenges due to the limited number of genetic counselling centres and specialised laboratories. Genetic tests are available in several laboratories with costs covered by the Croatian Health Insurance Fund.
The newborn screening programme in Croatia includes several rare diseases and is free of charge for all newborns:
- Phenylketonuria
- Congenital hypothyroidism
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (isolated or as part of trifunctional protein
- deficiency)
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
- Carnitine transporter deficiency
- Isovaleric aciduria
- Glutaric aciduria type I
- Spinal muscular atrophy (SMA)
The Croatian Health Insurance Fund allocates funds for drugs from the List of Particularly Expensive Drugs, improving the availability of treatment for rare diseases.
National registry
There is no comprehensive registry for rare diseases in Croatia.
Since 1983, a registry for monitoring congenital anomalies has been in place, which, as part of the EUROCAT network, monitors births in five regions of Croatia. This registry records congenital malformations, genetic syndromes, skeletal dysplasias, and chromosomal anomalies, covering most rare diseases.
The Disability Registry at the Croatian Institute of Public Health records approximately 3,000 documented cases of rare diseases. It is estimated that around 250,000 people in Croatia live with rare diseases.
Scientific research
There are currently no known research projects on rare diseases being conducted in Croatia.
The role of Rare Diseases Croatia
Rare Diseases Croatia (RDC) is a non-profit organisation that brings together people with rare diseases and their families. RDC has a dual role: the first is direct support for users, offering psychological support, counselling on rights, and assistance with medical issues. Additionally, RDC connects individuals with the same diagnosis, enabling direct support and fostering stronger connections within the patient community.
The second area of activity focuses on advocacy and raising awareness of rare diseases. RDC actively works on educating and informing the wider public through campaigns aimed at improving the quality of life of affected individuals. It also advocates for changes in social and health policies to enhance patients’ quality of life and ensure the accessibility of rights for people with rare diseases.
Relevant resources
- Croatia_RD National Programme_2015-2020_Croatian
- Croatia_RD National Programme_2015-2020_unofficial English version
National contact:
Rare Diseases Croatia
www.rijetke-bolesti.hr
rijetke.bolesti@gmail.com