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.
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 METHOD FOR DEVELOPING A PNDS?
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
- Chronic Intestinal Pseudo-Obstruction PNDS → in process of writing
- Paediatric Short Bowel Syndrome PNDS → in process of writing
- Short Bowel Syndrome in Adults PNDS → in process of writing
- Familial Polyposis PNDS → in process of writing
- Hereditary Chronic Pancreatitis PNDS → in process of writing
- Genetic Intestinal Hypercholesterolaemia PNDS → in process of writing
- Eosinophilic Oesophagitis PNDS → project to be started in September 2020
DGOS CALL FOR PROJECTS TO WRITE A PNDS
In March 2019, DGOS launched its first call for projects to produce PNDS protocols for rare diseases. 180 PNDS protocols will thus be produced for rare diseases through this call for projects from now until the end of 2020.
The 5 CRMR awardees for the FIMATHO network:
- the coordinating reference centre for rare digestive diseases (MaRDi or Maladies Rares Digestives), Paris (APHP - Hospital Robert Debré);
- the 2 member reference centres for rare digestive diseases (MaRDi): Lyon (HCL) and Paris (APHP - Hôpital Beaujon);
- the reference centre for Pancreatic Rare Diseases (PaRaDis), Paris (APHP - Hospital Beaujon);
- the coordinating reference centre for Diaphragmatic Hernia, Lille (CHU of Lille).
The 5 PNDS which got the call for projects, and their coordinators:
- Hereditary chronic pancreatitis, Prof. Vinciane Rebours (PaRaDis, Hospital Beaujon);
- Short bowel syndrome in adults, Prof. Francisca Joly (MaRDi, Hospital Beaujon);
- Diaphragmatic hernia (DCH), Prof. Laurent Storme (Hospital Jeanne de Flandre, Lille);
- Genetic intestinal hypercholesterolaemia, Prof. Noël Peretti (MaRDi, Hospices Civils Lyon);
- Chronic intestinal pseudo-obstruction, Dr. Marc Bellaiche (MaRDi, Hospital Robert Debré).
In July 2020, DGOS launched a new call for projects to produce PNDS protocols for rare diseases.