A call for proposals for the drafting of Diagnostic and Care Protocols (PNDS) will be launched by the Direction Générale de l'Offre de Soins (DGOS) in the second quarter of 2026, in conjunction with the 4th National Plan for Rare Diseases 2025–2030.
Do you have an idea or a project? Please do not hesitate to contact Aurélie COUSSAERT, the network's PNDS liaison officer: aurelie.coussaert@chu-lille.fr
In compliance with the missions entrusted by the DGOS and with National Rare Disease Plan 3, FIMATHO is committed to providing methodological support in order to support and coordinate the drafting of National Diagnosis and Care Protocols (Protocoles Nationaux de Diagnostic et de Soins (PNDS)). These protocols are drafted by the Rare Disease Reference Centres (Centres de Référence Maladies Rares (CRMR)) of the network under national supervision and with cross-CRMR and cross-network project coordination, in collaboration with patients associations.
WHAT IS A PNDS?
A PNDS is a reference guide for health care professionals (primary care physicians or specialists, National Health doctors as well as physicians from the competence centres).
Its objectives are to explain:
- optimal care and treatment, and it must be clear, concise and contain the most up-to-date knowledge
- the care pathway of a patient with a recognised long-term illness
It includes several documents: a detailed guide (PNDS), a scientific overview, a summary for the treating physician and if needed, a list of acts and services (or Liste des Actes et Prestations, LAP)
It is based on published international recommendations, which will be listed in the scientific overview.
PNDS protocols are available for all and published on the websites of the Haute Autorité de Santé (HAS or French Health Authority), rare disease health networks, reference centres, patients associations, etc.
What is the methodology for developing a PNDS?
HAS has implemented a methodological guide "Method for developing national diagnosis and care protocols for rare diseases."
Regarding rare abdominal and thoracic diseases, what PNDS are currently in place or planned?
Chronic and Malformative Disorders of the Oesophagus Reference Centre (CRACMO)
PNDS for Oesophageal Atresia → updated in December 2018
PNDS for Eosinophilic Oesophagitis in Children → published online in July 2022
- PNDS for Paediatric Oesophageal Achalasia (in progress)
Congenital Diaphragmatic Hernia Reference Centre
- PNDS for Congenital Diaphragmatic Hernia → updated in October 2020
- PNDS Hepatocele (in progress)
Rare Digestive Diseases Reference Centre (MaRDi)
- PNDS for Genetic Intestinal Hypocholesterolaemias → published in October 2021
- PNDS for Short Bowel Syndrome in Adults → published in October 2021
- PNDS for Chronic Intestinal Pseudo-Obstruction (CIPO) in children → published in December 2021
- PNDS for Paediatric Short Bowel Syndrome → published July 2023
- PNDS for Congenital sucrase-isomaltase deficiency → published April 2025
- PNDS for Familial adenomatous polyposis (in progress)
- PNDS for Crohn’s disease in children (in progress)
- PNDS for Gastroparesis (in progress)
- PNDS for CIPO in adults (in progress)
- PNDS for Hirschsprung’s disease in conjunction with the Neurosphinx network (in progress)
Rare Pancreatic Diseases Reference Centre (PaRaDis)
- PNDS for Hereditary Chronic Pancreatitis → published online in December 2020
- PNDS for Cystic Pancreatic Tumours (excluding TIPMP) → published online in March 2025
Cross-network
- PNDS for Weaning off enteral nutrition in children → published online in October 2022
EXCEPTIONAL FUNDING FOR PNDS PROJECTS IN 2024
The FIMATHO network is providing exceptional funding for several PNDS (National Diagnostic and Care Protocol) projects, to be carried out by the network's centres of reference or competence.
The projects have been examined by the network's management and scientific committees.
The FIMATHO network has therefore decided to support 9 projects in 2024.
The 9 PNDS projects supported are:
- Oesophageal achalasia (CRACMO) Dr Aumar, Lille
- Familial adenomatous polyposis (MaRDi) Pr Mas / Pr Saurin, Toulouse / Lyon
- Chronic Pseudo Intestinal Obstruction in adults (MaRDi) Pr Joly / Pr Gourcerol, Paris Beaujon / Rouen
- Congenital Sucrase Isomaltase Deficiency (MaRDi) Pr Hugot, Paris Robert Debré
- Crohn's disease in children (MaRDi) Dr Martinez, Paris Robert Debré
- Hirschsprung's disease (MaRDi) Pr Lamireau / Dr Enaud, Bordeaux
- Gastroparesis in adults (MaRDi) Pr Gourcerol, Rouen
- Cystic lesions of the pancreas in adults (PaRaDis) Dr Napoléon, Lyon
- Giant ophalohepatoceles (Diaphragmatic hernia) Dr Boukhris, Lille
Drafting of these PNDS will begin in 2024, with publication scheduled for early 2025.
A FIMATHO liaison officer is dedicated to the PNDS and provides logistical and practical support to the various teams involved.
For more information, contact Aurélie Coussaert or the FIMATHO network.