Sciensano & Rare diseases

Sciensano helps to implement some of the actions defined in the Belgian plan for Rare Diseases (available in Dutch and French):

• Action 1: better financing for the diagnostic tests and monitoring of rare diseases, that are carried out in Belgium or abroad. Discover more information about Sciensano’s role in the context of action 1 of the Belgian plan for Rare Diseases. 
• Action 2: quality management in the Centres for Human Genetics by creating the Belgian Genetic Test Database
• Action 16: creation and management of the Central Registry Rare Diseases to collect and centralise data collected from patients affected by rare diseases in Belgium
• Action 17: management of the Orphanet Belgium database to allow easy and qualitative access to information regarding specialised Belgian services and research in the domain of rare diseases at national and European level.

Sciensano also hosts a number of disease-specific registries, such as the Belgian Neuromuscular Diseases Registry, the Belgian Cystic Fibrosis Registry and the Belgian Rare Bleeding Disorders Registry. Additional disease-specific registries are currently under development. The aim is to connect data collected in disease-specific registries to the CRRD to centralise data on patients suffering from rare diseases in Belgium.

Sciensano is involved in a number of ongoing and soon to be launched EU projects in the field of rare diseases. Some examples:

• The Orphanet Data for Rare Disease project (OD4RD). More information on the European OD4RD project website.
• The European Joint Programme on Rare Diseases (EJP RD). More information on the European EJP RD project website.
• The Joint Action JARDIN: to be initiated early 2024.

Belgian Genetic Test Database

Sciensano is responsible for the creation and the management of the Belgian Genetic Test Database. This publicly accessible database centralises comprehensive and relevant information about genetic tests offered in Belgium for the diagnosis of diseases with a genetic basis. The website provides an overview of genetic tests offered in Belgium, technical details and quality characteristics.

Central Registry Rare Diseases

Sciensano is responsible for collecting and analysing data from the Central Registry of Rare Diseases.

The Central Registry of Rare Diseases aims to centralise data from all of the Belgian patients affected by a rare disease in order to:

• collect epidemiological data 
• facilitate recruitment of patients for research and clinical trials
• identify the measures needed in terms of healthcare.

Data is currently collected from eight centres for human genetics that are officially recognised in Belgium. We have an active collaboration with the Belgian College of Genetics. More information on the website of the College of Genetics.  

Orphanet Belgium

Orphanet is the international reference portal for information on rare diseases and orphan drugs. 

Orphanet aims to help improve diagnostics, care and treatment for patients affected by a rare disease.

Sciensano is responsible for:

• keeping information related to Belgium in the international Orphanet database up-to-date
• managing the Belgian Orphanet website that holds information specific to Belgium
• translating the various Orphanet services to Dutch.

Codification

Text on Codification will follow.

Belgian Cystic Fibrosis Registry

Text on Cystic Fibrosis Registry will follow.

Belgian Neuromuscular Diseases Registry

Since 2008, Sciensano manages the Belgian Neuromuscular Diseases Registry (BNMDR), a clinician-reported registry that collects data from patients with a neuromuscular disease living in Belgium. The main goals of the BNMDR are to:

-        enable epidemiological research in the field of neuromuscular diseases,

-        support and promote the quality of care in the neuromuscular reference centers,

-        provide information to the public health authorities for health care planning in Belgium,

-        facilitate patient recruitment for clinical trials,

-        monitor the effectiveness of interventions and new treatments, and

-        support the procedures of market access and treatment reimbursement.

The registry is funded by NIHDI. The data is collected from the seven Belgian neuromuscular reference centers. We have a strong collaboration with TREAT-NMD, a global network of experts in the neuromuscular field that aims to accelerate the development of effective treatments and establish the best in diagnosis and care for people living with a neuromuscular disease worldwide.

Belgian Belgian Rare Bleeding Disorders Registry

The Belgian Rare Bleeding Disorders Registry (BRBDR), is a collaboration between Sciensano and the Belgian reference centres for haemophilia. The BRBDR will be a clinician-reported registry that will collect data from patients with (rare) bleeding disorders in Belgium. The main goals of the BRBDR will be :

• to provide insight into the total number of people with bleeding disorders, their diagnosis, the use of coagulation factors, bleedings, treatment results and side effects of the treatment
• to contribute and support to the Central Registry Rare Diseases in Belgium
• to compare the quality of care (benchmarking) of haemophilia treatment centres in Belgium
• to enable large-scale international studies and comparison with bleeding disorders treatment abroad, using data sharing with the World Bleeding Disorders Registry, PedNet Registry, and reporting side effects to the European Haemophilia Safety Surveillance database (EUHASS)
• to provide information for reports, scientific research and safety studies for (new) medications.

The BRBDR is currently under development and is planned to go live in Q3 of 2024.