RARE DISEASE DAY – February 28th, 2023
6 February 2023
Pierre Fabre pursues its commitment against rare diseases in the pediatric, oncology and dermatology fields.
The diseases are rare, but they impact a lot of people :
nearly 300 million people are affected worldwide1.
Castres (France), February 6th, 2023 – International Rare Disease Day® will be held on February 28, an opportunity for the Pierre Fabre Group to reiterate its commitment in this area, in which it is essential to put concrete action plans in place covering the entire spectrum of care from diagnosis to treatment and access to quality health care. There are around 5,000 to 8,000 known rare diseases in the world today2, 95% of which do not yet have a treatment3.
In addition to oncology and dermatology, Pierre Fabre has been involved in pediatric diseases for several years now, developing specific therapies for that patient population, which requires adapted treatments. Examples include infantile hemangioma where a therapy has been approved since 2014 and, more recently, X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) with a therapy under development.
FINDING A TREATMENT FOR CHILDREN WITH XLHED, WITH THE ESPERARE FOUNDATION
The Pierre Fabre Group has recently committed, with the EspeRare Foundation, to the development of an innovative therapy for the most common type of Ectodermal Dysplasia, XLHED, a rare genetic disease that affects the sweat and respiratory glands, skin, hair and teeth. EDELIFE, a large-scale clinical study, involving women who are pregnant with a boy carrier of the disease gene, was launched in July 2022.
For more information: https://edelifeclinicaltrial.com/
Article from the New England Journal of Medicine
I hope he gets to have a more normal life than my dad. That he’s not restricted, that he can get to play outside with his friends. I want him to be able to accomplish what he wants and not have that hurdle (of XLHED). I feel so much gratitude for the people doing the research and putting things in place.
A PRIVATE/PUBLIC PARTNERSHIP THAT IS CHANGING THE WAY WE TREAT INFANTILE HEMANGIOMA
Infantile hemangioma is the most commonly observed benign tumor in infants. Although it does not usually cause any complications, it can have harmful effects in some cases. In 2007, the Bordeaux University Hospital discovered by chance that a molecule frequently used in cardiology was effective at treating this pediatric skin disease. After a fruitful cooperation between the University Hospital and Pierre Fabre, this chance discovery became a concrete reality in 2014, with the worldwide commercialization of a treatment specifically designed for pediatric use.
In order to improve the patients’ journey, a scoring tool (IHReS) has been developed specifically for healthcare professionals to help them identify patients suffering from infantile hemangioma who require timely referral to an expert center.
At our follow-up consultation, the pediatrician told us that the appearance had changed and that he would prefer the angioma to be seen by a specialized dermatologist.
We waited a month, which seemed agonizingly long, because the angioma was almost 2 cm and I was afraid there was something else going on, which caused us a lot of worry.
I asked the pediatrician whether we could do anything, and I also consulted a dermatologist, who again told me it would clear up by itself at some point. Because it was located on the face and had gotten considerably larger in one month, he referred me to another dermatologist at the hospital, and asked him to contact me. No one called me, so in the end I made an appointment myself, but I had to wait 3 to 4 months for a slot.
THE EUROPEAN COMMISSION RECENTLY GRANTED MARKETING AUTHORIZATION (MA) FOR TREATMENT OF A RARE CANCER
The Pierre Fabre Group is also exploring rare diseases in the field of oncology : the French pharmaceutical company and the California-based biotech Atara Biotherapeutics (partners since 2021) announced in December that they had obtained MA for the treatment of relapsed or refractory Epstein-Barr virus-positive post-transplant lymphoproliferative disease (EBV+ PTLD) in patients aged over two who had received at least one previous treatment.
AN INTERNATIONAL EPIDEMIOLOGICAL STUDY TO IMPROVE UNDERSTANDING OF A RARE SKIN DISEASE
Dermatology is the branch of medicine that has the rarest disorders worldwide. 500 have been reported, all with very different forms. Ichthyosis is a rare disease that mainly affects the skin, significantly altering the integrity of the skin’s barrier function. It is characterized by desquamation ranging from mild yet unpleasant dryness to a more serious disorder that is difficult to live with day after day.
The Pierre Fabre Group has been supporting the Association Ichtyose France for over 20 years and is continuing its efforts to keep this little-known disease on the radar. Concrete actions include the Visible Diseases of the Skin study conducted by the Pierre Fabre Department of Medical Care and Patient Centricity : an epidemiological study involving over 13,000 people in 6 countries, on the prevalence and psychosocial impact of visible chronic dermatoses including ichthyosis.
For more information: Press conference on the Visible Diseases of the Skin Study - 11/30/21
A thousand thanks to Pierre Fabre […] for […] commissioning this study, […] because, we are a rare disease, it’s important for us to be recognized and heard, and these figures will help us to be so thank you very much. Our long-term relationship with Pierre Fabre is a good illustration of the close links forged with patients and patient associations, year after year!
A LONG-TERM APPROACH FOR THE PIERRE FABRE GROUP : CHANGING THE WAY WE LOOK AT VISIBLE DISEASES OF THE SKIN
Pierre Fabre also supports the DEBRA association, which addresses all sufferers of epidermolysis bullosa, or “butterfly skin,” and provides support to boost the visibility of this rare and currently incurable genetic skin disease.
For more information: Overview of epidermolysis bullosa - DEBRA association
Epidermolysis bullosa is characterized by the formation of bubbles or blisters or skin detachments, causing raw wounds that struggle to heal and pain. To soothe the ultra fragile skin of these patients, the Avène Hydrotherapy Center offers treatments that include fundamental care based on thermal spring water, known for its soothing, anti-irritating and healing properties, in the form of baths, all-over sprays and the application of impregnated compresses.
For the third year, we returned to Avène-les-Bains so that Louis could receive his hydrotherapy treatment. The second and third time he came for treatment, thermal spring water compresses were applied to his skin. Though not as popular as the bath, this treatment also produces real benefits. As well as the positive effects of the hydrotherapy treatment on the skin, we notice an improvement in overall well-being: better sleep, less scratching and a better appetite.
About rare diseases
A disease is considered as rare when it affects fewer than 1 in 2,000 people (in other words, a few dozen or a few hundred patients for a given disease). There are thought to be between 5,000 and 8,000 rare diseases2 (neuromuscular diseases, metabolic disorders, infectious and auto-immune diseases, rare cancers, etc.), affecting 3 million people in France, 30 million in Europe and over 300 million patients worldwide4.
Although they concern relatively few individual patients, they affect a significant proportion of the population as a whole, which makes them a very real public health issue across the globe.
About Pierre Fabre
Pierre Fabre is the 2nd largest dermo-cosmetics laboratory in the world and the 2nd largest private pharmaceutical group in France. Its portfolio includes several medical franchises and international brands, including Pierre Fabre Oncology, Pierre Fabre Dermatology, Eau Thermale Avène, Klorane, Ducray, René Furterer, A-Derma, Darrow, Glytone, Naturactive and Pierre Fabre Oral Care. In 2021, Pierre Fabre posted 2.5 billion euros in revenues, 66% of which came from international sales in over 100 countries. Established in the South-West of France since its creation, and manufacturing over 95% of its products in France, the Group employs some 9,500 people worldwide. 86% of the Pierre Fabre Group is held by the Pierre Fabre Foundation, a government-recognized public-interest foundation since 1999, and secondarily by its employees via an employee stock ownership plan.
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