Rare Disease Day 2023

February 27, 2023

If you follow our news, you know that rare diseases are one of the areas of expertise of our medical writing team.

At Santé Active Edition – Synergy Pharm, we are therefore particularly keen to express our support to patients and all those involved in the fight against rare diseases on Rare Disease Day.

Rare diseases and the organization of care

What is a rare disease?

Diseases are defined as “rare” when they affect less than one person in 2,000. However, as collectively rare diseases are very numerous (with over 7,000 being identified to date!), more than 300 million people are affected worldwide. Therefore, rare diseases represent a major public health concern.

Which diseases are rare?

About 80% of rare diseases have a genetic origin. According to a systematic study carried out by Orphanet in 2022, the rare diseases with the highest prevalence are Trisomy 21, neural tube defects and cleft lip and palate. Conversely, among the rare diseases with the lowest prevalence, there are nearly 100 diseases that have each only been identified in a single family to date.

What is the difference between rare diseases and orphan diseases?

It is estimated that 97% of rare diseases are also orphan diseases, i.e., diseases for which no curative treatment exists. However, the people affected by these diseases, and their relatives, can still benefit from specific care.

The organization of care for people affected by a rare disease

The rarity and lack of awareness of rare diseases can often lead to diagnostic delays. France was the first country in Europe to develop and implement a National Rare Disease Plan (Plan National Maladies Rares, PNMR) in 2005. This first initiative has since been succeeded by three further PNMRs* to provide a structured framework for diagnosis, treatment and innovation in the field of rare diseases and to ensure better patient care. PNMR4 is currently being developed and all actors are being mobilized to build on the progress made so far and further strengthen their actions for the benefit of patients.

The 23 rare disease clinical networks (Filière de Santé Maladies Rares, FSMR) labelled under the PNMR2 in February 2014 in France and the 24 European Reference Networks (ERNs) launched in 2017 in 26 Member States of the European Union bring together specialized healthcare professionals. These networks play a major role in sharing knowledge, as well as in improving the quality and the coordination of care for patients with rare diseases.

Beyond care, people with rare diseases and their relatives (family caregivers/caregivers) living in France can find up-to-date information on the additional support available for them in the new Orphanet Notebook “Vivre avec une maladie rare en France” (“Living with a rare disease in France”), which was updated in December 2022.

Rare Disease Day 2023: Events and Resources

Since it was first held in 2008, Rare Disease Day has been celebrated every year on the last day of February through the organization of events and awareness-raising activities.

This awareness campaign is coordinated by EURORDIS-Rare Diseases Europe at the international level, and by national alliances (e.g., Rare Disease UK in the United Kingdom, Rare Diseases Alliance in France), patient organizations, and other groups at the national and local levels.

Information about the events being organized in participating countries for this year’s Rare Disease Day (the 16th edition!) can be found here.

If you wish to support Rare Disease Day on February 28, 2023, you can find the campaign kit in several languages on the Rare Disease Day website.

Santé Active Edition – Synergy Pharm projects in the field of rare diseases

Santé Active Edition – Synergy Pharm participates in the fight against rare diseases and for better patient care through medical writing, and thanks to the trust placed in our company by its clients.

Last year, on Rare Disease Day 2022, we told you about cystic fibrosis and the elexacaftor-tezacaftor-ivacaftor (Kaftrio®) combination therapy developed by Vertex Pharmaceuticals. We are pleased that this treatment is now also available to children aged 6 to 11 years with at least one F508del mutation in France.

We also told you about inherited epidermolysis bullosa, a group of very painful inherited dermatoses that affect children from an early age (sometimes referred to as “butterfly children” due to the fragility of their skin) and for which there is currently no curative treatment. Young patients should benefit from preventive measures and specific daily skin care. A letter to the editor, written with the support of our medical writing team and recently published in The Journal of the European Academy of Dermatology and Venereology (JEADV), analyzes French data on the epidemiology of epidermolysis bullosa and on patient monitoring in the centers of expertise of the French national network for rare diseases. While these data show an improvement in the diagnosis and management of these young patients since the introduction of PNMR2, the disease burden remains very high for them and their families. Additional human and financial resources are still needed to help them in their daily lives.

Our skills in lay medical writing have also enabled us to support the NMO France association in writing the content for its website. NMO France is the first and only patient association, in France and in the French-speaking world, dedicated to people affected by rare inflammatory diseases of the brain and spinal cord such as neuromyelitis optica (NMO, formerly called Devic’s Disease), neuromyelitis optica spectrum disorders (NMOSD), myelin oligodendrocyte glycoprotein antibody disorders (MOGAD), transverse myelitis, acute disseminated encephalomyelitis (ADEM), and optic neuritis (ON). The symptoms of these diseases usually occur suddenly, can worsen rapidly (within a few hours to a few days), and can result in severe disabilities such as blindness, incontinence, tetraplegia, etc. Rapid and appropriate management can limit the risk of sequelae, but diagnostic delays are frequent because of the variety of symptoms and the lack of knowledge of these diseases in non-specialized centers. Recent advances, such as the discovery of antibodies to aquaporin-4 (AQP4) and antibodies to Myelin Oligodendrocyte Glycoprotein (MOG), make it possible to better distinguish these diseases from each other and to distinguish them from multiple sclerosis (MS), allowing the more rapid implementation of appropriate treatment.

As mentioned in our previous news update published in connection with World Sight Day 2022, the launch of this website generated very positive feedback from patients, helping them find clear answers to their questions (“Very, very well explained, clear with words understandable by all”) and feel “understood” and “less lonely”. This website also increases the visibility of the association and will help raise awareness of these rare diseases. The more these diseases are known, the better they will be diagnosed in the future!

In the United States, March of last year was officially proclaimed as NMO Awareness Month in 40 states. In France, the first National NMO Day will be held on March 1, 2023. On this occasion, a round table bringing together physicians, researchers and patients is being organized from 5:30 p.m. to 7 p.m. You can view the program and register to connect to this event remotely.

Projects concerning other rare diseases are underway at Santé Active Edition – Synergy Pharm. We will share them with you soon.

*PNMR1: 2005-2008, PNMR2: 2011-2016, PNMR3: 2018-2022