registries

In the spirit of the EU Council Recommendation on Rare Diseases (2009) and on the EUCERD recommendations on patient registration (2013), the European Commission has decided to support European Reference Networks in setting up patient registries. 

A registry is a database in which information about individuals is kept. In the case of a patient registry it concerns (medical) data of patients. Examples of such data are: age, diagnose or medical indication, treatment followed, stage of development of the disease, etc.

The usefulness of registries

Patient registries, for example, can provide insight into:

• The number of patients with a condition
• The course of the disease and its differences between patients
• Effects of a medicine
• The quality of care in different hospitals
  For rare diseases, registries are believed to be important. A registry bundles the limited amount of information there is about the condition. This creates more insight and knowledge to improve patient care. It is important that the correct information is collected, including patient-generated data, and that patient involvement in the registry is guaranteed. 

For the complex rare diseases as seen in Ithaca context the heterogeneity of the rare disease makes it important to see these variations, a registry across country boundaries gives a better insight in this.

Money for rare diseases is hard to get, a registry could help in showing the decision makers the importance of investing in Rare diseases.

Ithaca's plan

• Create a 'umbrella' registry 
• Links existing registries to the umbrella
• Push Information into European Rare Disease Registry Infrastructure EDRI for working together with other ERN's.

Ithaca considers itself to be probably the most complex to implement in a registry because of:

• the huge number of diseases and 
• the complexity of each disease.

The name for the Ithaca registry is proposed as ILIAD

The main contributors are : 

HCP's  (Centre of expertise, University centre's) that are full or affiliated members of ITHACA
_{The development is together with ERN Skin and ERN CRANIO}

The intended users of ILIAD are:

all clinical and research practitioners

ILIAD aims to interoperate with:

relevant data sources in and outside ITHACA.

Planning

1. Set up a central ERN ITHACA registry
2. Set up a local version of the registry software that could be used by HCPs
3. Governance of ILIAD registry
4. Obtain patient records from several HCPs
5. Connect with other ERN registries
6. Establish interoperability of Central ITHACA Registry with at least one RD registry outside of the ERN network

S3. takeholders

1. Affected people (including those with no diagnosis) represented by ePag Council, that will will be involved in the monitoring and development of the registry and more specifically in the connection of patient-based registries to the Central ERN registry.
2. Healthcare providers and researchers, The 38 European centres approved in ERN-ITHACA. Professionals in the ITHACA network will work together to develop and implement registry information
   1. collaborative and statistically valid clinical and fundamental research in the field of developmental anomalies
   2. information on the factors involved in the disease process and the demographics of patients
   3. improve the quality of the guidelines or expert recommendations produced to address the needs of these patients
3. Health Policy Makers, valuable for the elaboration of policy decisions that impact RD patients in general and ITHACA patients in particular. 
4. Industrial stakeholders

4. Relevance

• Following EU recommendations
• Added Value;
  • contribute to the general knowledge about RDs
  • overcomes the fragmentation of patient populations across the 28 states of the EU
  • elucidate or refine EU wide health policies in the field of developmental disorders
  • strengthen networking activities within and across ERNs
• Added value in terms of care
  • integrating professionals from (smaller) countries without extended knowledge about a specific rare disease
  • and promoting best practice guidelines individualized by disorder.

Geographic coverage

• 38 HCPs from 14 of the 28 Member States
• applications for affiliated member status from around 7 other countries
• for HCP's not allowed to use WEB access a special tool will be developper so these countries can also participate

Context

• Compliance with EU Regulation 2016/679 and Directive 2016/680 on the processing and free movement of personal data, as well as with all pertinent national laws and regulations in the member states
• (it is stated that Rare diseases ar more in need (having more problems) as general population)
• Ethical aspects are of extreme importance, in which the Patient Council will have a strong involvement, is foreseen in this application

5. Methods and Means