MALTA RARE DISEASE REGISTER
‘Living with a rare disease is not easy. It is a chronic illness with an invisible side, that is poorly understood, not investigated and cannot be cured. Help and support me to face my daily challenge’ (Ms Jacqueline Bianco)
‘Rare diseases are rare, but rare diseases patients are numerous’ (Gliklich & Dreyer, 2010)
A rare disease is one that affects less than 1 in 2000 persons. 25% of all known and documented diseases occurring in humans may be classified as rare. In Malta, every day there are 25 – 30,000 persons that wake up fighting the battle of a rare disease. For this reason, the Ministry feels that it needs to be closer to these people in helping them to enhance their quality of life.
Most of these rare diseases are genetic and chronic. It is estimated that 80% are genetic. Symptoms of rare diseases may appear at birth or in childhood, but sometimes appear once adulthood is reached.
Find out more about the International Rare Disease Day by clicking the image.
Aims
Our aim is to ensure earlier diagnosis to preserve and enhance the patient’s quality of life by improved access to healthcare, but also in other sectors like education and social services.
Specific aims of the Rare Disease Register include:
- To harvest data collected from a number of other sources (including the Congenital Anomalies Register, the Cancer Registry and Treatment Abroad) and a register of cases of patients suffering from rare diseases will be compiled.
- To provide a surveillance function by using registry data to examine trends by age and gender, by rare disease type, over time and across the nation. This is performed by issuing regular reports and by providing physicians and the general public with information they may need, while respecting strict confidentiality.
- To facilitate epidemiological research. Much remains either unknown or poorly understood about the causes and the potential for prevention in the rare disease sphere. Once set up, the registry should be able to respond to a number of requests from people of differing interests, like students, clinicians and journalists. It also contributes information to international publications and databases.
Background
Up until now, data on certain rare diseases are collected through other sources like the Congenital Anomalies Register, the Cancer Registry and from Treatment Abroad. We have never had a registry specific for rare diseases. In recent years there has been a push from EU through ‘Orphanet’ to give a voice to people who have no voice. The rare diseases register will help in working on the rare diseases policy.
‘Orphanet’ is a website that is updated on a regular basis with information that is based on published scientific articles. Its main aim is to provide rare diseases information to not only healthcare professionals, but also patients and their relatives. Information in ‘Orphanet’ is not intended to replace professional health care.
The Orphanet website can be accessed by pressing the image below.
Coverage
The register is population-based and aims at covering most diagnoses falling under the definition of rare diseases. Eventually the list could run into several thousands of cases based on comparable International prevalence rates in other countries.
Data Sources and Collection of Information
Data can be collected from:
- Congenital Anomalies Register
- Cancer Registry
- Treatment Abroad Registry
- Patient Registries
Data on rare diseases is coded using the Orphanet Classification of Rare Diseases
Rare Diseases in Malta – Annual Reports
Annual Report for 2023
Annual Report for 2024
In each of the above reports, the first page shows the most common reported rare diseases and the number of individuals suffering from each disorder in Malta in 2024, identifying also the respective thematic groups for each disorder. One should note that certain disorders fall under more than one thematic group (ex: Differentiated Thyroid Carcinoma falls under ‘Rare endocrine disease’ and ‘Rare neoplastic disease’). On the second page, one finds the total number of rare disease cases in Malta in 2024 for each thematic group. It is important to note that the sum total of the different thematic groups does not reflect the total number of rare disease cases in Malta, since certain cases and diseases fall under more than one thematic group, as explained above.
NGOs
The National Alliance for Rare Diseases is a non-governmental organisation which brings together all the stakeholders including patients and their relatives, researchers, medical professionals and other organisations representing specific conditions. Representation of patients has been magnified with more care, support and awareness increasing for the benefit of the patients and their relatives. The National Alliance and its founder, The Marigold Foundation, worked incessantly, so that a National Register was started in collaboration with the Ministry for Health in 2016. This National Register is making it possible to trace rare conditions and diseases in Malta.
Click here to view the website of the National Alliance for Rare Diseases Support.
EURORDIS is a non-governmental patient-driven alliance of patient organisations and individuals active in the field of rare diseases, dedicated to improving the quality of life of all people living with rare diseases in Europe. For more information about this organisation, click on the image below.
Forms
The aim of the registry is to collect as much information as possible on rare diseases in Malta. With this in mind, we encourage doctors to notify us of patients who have been diagnosed with a rare disease. The Malta Rare Disease Register collects and processes personal information for statistical and research purposes and in the interests of public health. All data is collected and processed in accordance to the Data Protection Act 2018 (CAP. 586). To submit your notification, please click here.
External links