Main missions of the FIRENDO network

To improve care for a rare disease, it must be legible and visible, and there must be less obstacles between the different places and the different actors of healthcare. The main objectives of rare disease networks aim to achieve these improvements.

The FIRENDO network has developed these general objectives following three main lines:

Providing information about rare diseases

This is the first mission for all of the rare disease healthcare networks.

Thus, FIRENDO aims to develop communication on rare endocrine diseases:

with patients and their families: by providing information about the documents and the therapeutic training programs set up by the reference centres; by organizing information days; by involving the associations in network actions ;
with healthcare professionals: by offering them structured and quality training, based on rare diseases and their care facilities; by encouraging them to spread their knowledge to colleagues who have never met a "rare" patient before ;
with students: by signalling studies, as well as thesis and masters financing for research projects related to rare endocrine diseases; on a regional and international level: by providing field data and members' opinions to reveal difficulties encountered by the health service ;
internally: by developing a computer system for secure data exchange, adapted to facilitate the sharing of expertise, data and documents for patients.

Improving the patient care pathway

Nowadays, rare diseases serve to reveal defects and progress made in all the different fields of care: diagnosis, treatment, medico-social, etc.

Even though France has its own national structures to care for rare diseases which are without precedent in Europe and the rest of the world, progress still has to be made to improve referral of patients, their families and professionals in the healthcare service.

FIRENDO aims to achieve this via the three following means :

National Protocols for Diagnosis and Care (PNDS)

The aim is to draw up an extremely standardised instruction manual for each particular rare disease. Designed for the different members of medical staff, especially general practitioners, this extensive document gives details of symptoms, diagnostic decision trees, as well as the different steps for care and treatment. It therefore serves as a guide defining optimal care and treatment for a given rare disease.Besides this very strict framework of national protocols, the FIRENDO network aims to encourage its members to draw up recommendations for good practice or emergency procedures. These could then be used in a multilingual electronic medical record for rare endocrine diseases which can lead to emergency situations.

Interactive Directory of the FIRENDO network

The creation of this directory had several objectives:

for patients: to find a quality care or counselling centre nearby ;
for healthcare professionals (liberal or hospital): to identify and localize an expert when faced with a difficult clinical case ;
for the members of FIRENDO: to target the right person for sharing expertise or concerning a research project.

Network of hormone testing laboratories

Along the same lines as genetic testing laboratories, encouraging the creation of this network will lead to the creation of an on-line resource directory uniting resources for specific assays.

Carrying out an epidemiological watch

We seek to improve data collection (epidemiological, clinical, para-clinical and genetic) for the rare diseases of the FIRENDO network in France.

Epidemiological (demographic data) and diagnostic (clinical, para-clinical and in some cases genetic) data is already collected for patients who are cared for in the six FIRENDO reference centres. Data is collected and archived in a group of 13 databases: local, national, but also European. In order to harmonise patient follow-up and data collection, FIRENDO has a dual approach :

Challenge 1

The different databases do not communicate enough with each other.

Data concerning the number of patients with the same diagnosis remains scattered and unexploitable. The extent of indicators and the quality of collected data varies from one database to another.

Solution

Establishment of a unique database for all of the network facilities.

FIRENDO has chosen a database set up in 2006 by 61 reference centres: CeMaRa (a pool of Rare Disease Centres). It is managed by the collective National Data Bank for Rare Diseases (BNDMR). Contrary to other existing databases, CeMaRa will include patients suffering from all of the rare endocrine diseases covered by the FIRENDO network throughout the whole French territory.

Challenge 2

The French Rare Disease Plan I intended the centres of competence to participate in supplying data to the associated reference databases.

This is still not the case, due to a lack of organisation, means or time.

Solution

Allocate time to the centres of competence to establish circuits for data collection.

The FIRENDO Head of project works with the staff from the regional centres. Together, they do a substantial amount of work to supply data to the unique database, CeMaRa, which has already proved its worth in the 61 referenc

Thus the FIRENDO network contributes towards a better knowledge of epidemiology, natural history and pathophysiology focussing on the comprehension of prognostic factors for complications and therapeutic advances.