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rare diseases: pending the 4^th PNMR (national program for rare diseases)

AUGUST 24, 2022 — published by Pyramidale Communication

Maladies rares : en attendant le 4ème PNMR

Currently, the scientific community is aware of more than 6,000 rare diseases, with 250 to 280 new ones being described each year, thanks in particular to advances in genetic research.

Rare diseases in numbers

Source : IRDiRC Conference, Paris, February 2017

350 millions people worldwide are affected by rare diseases, including 3 million in France
7000 rare diseases
75% of patients are children
50% of new genetic therapies apply to rare diseases

Diagnostic wandering is one of the major challenges of rare diseases. It is defined as the period between the appearance of the first symptoms and the date when a precise diagnosis is made.

Currently, one quarter of affected individuals wait nearly four years before the diagnostic process even begins. Once initiated, it takes at least a year and a half for the vast majority of patients, and more than five years for over a quarter of them, to receive a diagnosis.

RARE à l’écoute, a podcast and live broadcast dedicated to rare diseases, regularly receives testimonials recounting long and difficult diagnostic journeys exceeding ten years.

“I spent 14 years wandering from one diagnosis to another and I have very bad memories of that period.”

Testimonial from Ms. C., who suffers from kinins- mediated angioedema

Reducing the time required to obtain an accurate diagnosis is one of the priorities of the 2018–2022 National Plan for Rare Diseases (PNMR3).

THE 3^rd NATIONAL PLAN FOR RARE DISEASES (PNMR3) FOCUS ON THE 5 AMBITIONS

Enable rapid diagnosis for everyone, to reduce diagnostic wandering and impasse ;
Innovate to treat, so that research can expand therapeutic options ;
Improve the quality of life and autonomy of patients ;
Promote communication and training to share knowledge and expertise on rare diseases ;
Modernize organizations and et optimize national funding.

The 23 National Rare Disease Health Networks form the organizational foundation of PNMR3 and are key drivers of research and innovation.

The FILNEMUS, network, coordinated by Prof. Attarian, was selected to run a pilot project aimed at combatingdiagnostic wandering and impasse.

FILNEMUS, French Health Care Network FIlière for NEuroMUScular diseases, is the organization officially designated by the DGOS to coordinate the reference and competence centers involved in rare neuromuscular diseases.

“Currently, the FILNEMUS network has identified 50,000 patients aacross these centers, with 20,000 in France experiencing diagnostic wandering.Diagnostic delays are especially pronounced in neuromuscular diseases, where diagnosis is long, challenging, and requires specialized expertise.”

Interview with Prof. S. Attarian, Coordinator of the FILNEMUS Network, Timone Hospital, Marseille

About this project led by the FILNEMUS network will be available in December 2022, providing a detailed update on the results.

The Neurosphynx network, meanwhile, is leading an inter-network pilot project on the transition from childhood to adulthood, a critical phase for rare disease patients. Dr. Celia Cretolle, coordinator of the MAREP Reference Center, offers a highly informative interview detailing the goals and strategies implemented for this project.

The other health networks also play a crucial role in reducing diagnostic wandering for the diseases they cover. Contributing to their visibility is a commitment of RARE à l’écoute, through podcasts and live sessions dedicated to rare diseases, featuring episodes on the various rare conditions they address.

Even when a specific treatment does not exist for every rare disease, correctly diagnosed patients can still benefit from more appropriate care.

Patient associations, where they exist, provide support and share patient testimonials for each of the diseases mentioned.

MaRIH network: Kinin Angioedema,” with the CREAK Center
FILNEMUS Network: “Charcot-Marie-Tooth Disease”
OSCAR Network: “Osteogenesis Imperfecta,” “Myrhe Syndrome,” and “Ehlers-Danlos Syndrome”
Filfoie Network: “Liver Vein Diseases”
NeuroSphinx Network: “Spina bifida”

BNDMR: key numbers from the first report

The French National Rare Disease Registry (BNDMR, Banque Nationale de Données Maladies Rares) is a national database collecting data about patients suffering from rare diseases monitored in French rare disease centers.

This project was implemented as part of the French National Rare Disease Plans PNMR2 and ensures the development and deployment of the BaMaRa application.

For each patient, a National Minimum Data Set for Rare Diseases (SDM-MR, Set de Données Minimales – Maladies Rares) is collected. The BaMaRa application enables each center to record its activity.

For the first time, the operational unit of the National Rare Disease Data Bank (BNDMR) has released its very first report detailing the number of cases recorded for each rare disease in its database as of March 1, 2022. The report covers more than 4,600 different rare diseases.

Of the 4,600 rare diseases recorded, more than 2,500 affect fewer than 10 patients in France.

The most common rare diseases are:

12,000 patients with cystic fibrosis
10,000 patients with type 1 neurofibromatosis
Nearly 9,500 patients with sickle cell disease
9,200 patients with ALS
5,500 patients with autoimmune Myasthénie
…

Follow the link to access the full report: https://www.bndmr.fr/premiere-publication-du-nombre-de-cas-par-maladierare-recenses-dans-la-bndmr/

Towards digital solutions to combat diagnostic wandering?

The results of the rare disease survey conducted with Maladie Rare Info Services, the health Care networks, and the Collège de la Médecine Générale speak for themselves:

40,5% of physicians prefer online resources for enhancing their knowledge and clinical practice in rare diseases,
and 73,3% identify websites as the best resource.
94% of young physicians or medical interns use their smartphones for professional purposes, and nearly three out of four do so several times a day.

In addition to medical apps, diagnostic support applications are also emerging, including:

Prognosis
AideDiag
MEDCalc
Calculate by QxMD
MEDPICS

RARE à l’écoute is a podcast and live broadcast dedicated to all rare diseases. Launched in 2020, it has confirmed this trend with over 180,000 listens and by covering more than 35 rare diseases accessible online and on major podcast platforms.

From online MedEd programs to product launches through educational podcasts and customized KOL mapping, Pyramidale Communication, a specialist in rare diseases, offers a wide range of digital solutions leveraging its expertise to make information and training easily accessible.

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