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 (CRMR or Centres de Référence Maladies Rares) of the network under national supervision and with inter-CRMR and inter-network project coordination, in collaboration with patients associations.

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.

HAS has implemented a methodological guide "Method for developing national diagnosis and care protocols for rare diseases." 

For rare abdominal and thoracic diseases, what are the existing PNDSs or those in the planning stage?

• Oesophageal Atresia PNDS → updated in December 2018

• Diaphragmatic Hernia PNDS → updated in October 2020

• Hereditary Chronic Pancreatitis PNDS → updated in December 2020

• Genetic Intestinal Hypocholesterolaemia PNDS →  updated in October 2021

• Short Bowel Syndrome in Adults PNDS → updated in October 2021

• Chronic Intestinal Pseudo-Obstruction PNDS → updated in December 2021

• Eosinophilic Oesophagitis PNDS → updated in July 2022

• Weaning children from prolonged enteral nutrition PNDS → updated in July 2022

• Paediatric Short Bowel Syndrome PNDS → published in July 2023

• Familial Polyposis PNDS → in process of writing

Visit the HAS website to view all existing PNDS

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.