International Rare Disease Day – February 28, 2025
21 February 2025
Pierre Fabre Laboratories committed to fighting rare diseases through innovative therapies and game-changing partnerships
In the European Union, a rare disease is defined as affecting fewer than 5 people per 10,000, and about 80% of these diseases are of genetic origin.1
Castres (France), February 21, 2025 – The upcoming International Rare Disease Day, "Rare Disease Day®," on February 28, is an opportunity for Pierre Fabre Laboratories to reaffirm their commitment to developing and providing innovative medications. In this field partnerships are essential to advance research and the discovery of new treatments.
Already known for their involvement in oncology and dermatology, Pierre Fabre Laboratories have been investing in rare diseases for several years. This year, we highlight four rare diseases: ectodermal dysplasias, ichthyosis, infantil hemangioma and a very rare cancer EBV+ PTLD
Alongside the EspeRare Foundation to treat XLHED
Pierre Fabre Laboratories have partnered with the EspeRare Foundation to develop an innovative in utero therapy candidate for the most common form of ectodermal dysplasias (ED), XLHED, a rare genetic disease that particularly affects sweat and respiratory glands, skin, hair, and teeth, impacting 350 boys worldwide each year.
Currently, there is no curative treatment for this condition.
Pierre Fabre Laboratories and the EspeRare Foundation are investigating a therapy to be administered during pregnancy to boys affected by XLHED. A clinical trial is underway in the United States and Europe, called Edelife, recruiting pregnant women with boys affected by the condition. The aim of this clinical trial is to assess the efficacy and safety of this investigational therapy, which, if successful, could improve the sweating ability and thermoregulation. Currently, 10 patients have already been included in this study, marking the halfway point. A new investigative center has opened in Los Angeles (USA), bringing the total number of centers in the USA and Europe to 8.
For more information on this study: https://edelifeclinicaltrial.com/
3 questions to Muriel Dubreuilh, President of the French Association of Ectodermal Dysplasias (AFDE)
How is daily life for a child suffering from XLHED?
Children and families adapt for the child's well-being to allow them to thrive. There are daily care routines, such as moisturizing the skin, mucous membranes, and eyes. Upon returning from school, the child establishes rituals such as lying on the ground and taking a shower. The child learns to take care of themselves by cleaning their nose and performing proper dental care. Outings in the summer are excluded even with refreshing equipment.
What are the means of action that make life easier for them?
• Bringing an air conditioner to school
• Wearing cooling vests as soon as it starts to get hot
• Having a water bottle and always staying close to water points.
• Favoring activities like swimming.
What is the role of the AFDE in helping parents?
• Facilitating access to information on Ectodermal Dysplasias by organizing national days
• Helping with school, social, and professional integration by offering aid funds to support medical expenses
• Connecting with healthcare professionals
• Supporting research
• Connecting with other associations for caregivers
EBV+PTLD: Bringing personalized treatments for a very rare post-transplant lymphoma
Pierre Fabre Laboratories and the Californian biotech Atara Biotherapeutics have been partners since 2021 in the treatment of post-transplant Epstein-Barr virus-positive lymphoproliferative disease (EBV+PTLD). In December 2022, the European Medicines Agency (EMA) approved this innovative treatment.
Recognizing the challenges faced by those living with EBV+PTLD, Pierre Fabre has launched a dedicated website (www.ptld.eu) to provide comprehensive support and information to the patients. This platform, developed with input from patient representatives, offers valuable resources, including detailed information about PTLD, an interactive map for locating patient support groups, and tools to help patients and their families understand and manage the condition
3 questions to Juan Carlos Julián, managing director at Federación Nacional de Asociaciones ALCER (Spanish Kidney Patients´ Federation).
What are the biggest challenges that PTLD patients face in terms of awareness and understanding of the disease?
EBV+ PTLD is a rare condition that can happen after receiving a stem cell transplant or a solid organ transplant, such as kidney transplants. One of the biggest challenges PTLD patients face is the lack of awareness and understanding of the disease among both the public and healthcare providers. Identifying key symptoms early can significantly improve disease progression, whereas delays in diagnosis and treatment can be fatal. For kidney transplant patients, the challenge is compounded by the need to differentiate PTLD symptoms from other post-transplant complications, which requires specialized knowledge and attention
What types of support and resources are most needed by PTLD patients, and how can they best access these resources?
PTLD patients need comprehensive support that includes access to specialized medical care, psychological support, and disease-specific health education. Support groups and patient networks can provide invaluable emotional support to help patients adapt to and accept the disease by sharing testimonies from people who have gone through similar situations. Access to these resources can be facilitated through patient advocacy organizations, medical societies and reliable online platforms that connect patients with similar experiences and expert advice.
How does PTLD affect the daily lives of patients and their families, and what can be done to help them?
It is important to consider that this means facing a new stressful situation that once again threatens their quality of life or puts it at serious risk. After the transplant, affected individuals often believe they have overcome their worst moment and are regaining their health, but this new setback caused by PTLD can have a significant physical and emotional impact, severely affecting their quality of life. The disease may require frequent medical appointments, treatments, and hospitalizations, which can disrupt daily routines and affect quality of life. To help patients and families, it is crucial to provide comprehensive care that includes medical treatment, mental health support, and financial assistance.
With European Patient’s association to improve the management of Ichthyosis
Ichthyosis is a rare disease that mainly affects the skin, with a significant alteration of the skin's barrier function integrity. It is characterized by scaling ranging from mild but unpleasant dryness to a more severe and disabling disease in daily life. Ichthyosis affects about 1% of individuals.
An international multicenter, randomized, placebo-controlled, double-blind study demonstrated the effectiveness of a suitable medical device in the treatment of ichthyosis in 231 children. The study published in JEADV2 evaluated the improvement of skin dryness and associated symptoms in patients under 18 years old suffering from non-bullous ichthyosis. The results showed that 60.3% of patients treated with the emollient cream experienced a significant reduction of at least 50% in the score assessing their skin dryness after 28 days, compared to 43.5% in the placebo group (P = 0.008). The efficacy of the emollient cream was also deemed satisfactory in 80% of patients treated, compared with 50% for placebo, and was well tolerated, with few treatment-related adverse events.
Ichthyosis testimonies from European patient associations
(Catherine Baissac, Patient centricity manager at Pierre Fabre Laboratories; Maya El Hachem, Head of Pediatric Dermatology Department at Bambino Gésù Children’s Hospital, Rome; Véronique Bartolomeu, Co-President of the Ichthyosis France Association; Samuel San Juan, Member of the Spanish patient association ASIC, Elisabetta Tronci, member of the Italian patient association Unity)
Regarding skin disease, there was a limited large-scale prevalence data, thus the idea emerged in 2020, with the help of patient associations, to launch a program named VDS for Visible Disease of the skin to send questionnaires to patients initially in 20 Countries (50,000 respondents). In the case of Ichthyosis, as a rare disease, we send the same questionnaire through patient associations.
Using this methodology, 384 questionnaires were completed. This exceptionally high return rate for a rare disease has enabled us to highlight the way patients feel, their physical and mental suffering depending on the parts of the body affected, and the impact of this disease on their everyday lives.3
1/200 000 people affected by Ichthyosis worldwide
73 % indicate that the disease has influenced their professional life
Among respondents, 76 % say their personal life would have been different without ichthyosis
Ichthyosis impacts: 51 % hands, 44% the face, 76 % other areas of the body
Consult an overview of this study: Changing your perspective - Pierre Fabre
Listen to some testimonies: (580) 2024 EUROPEAN SURVEY on Ichtyosis testimonies - YouTube
Working with Bordeaux University Hospital to treat infantile hemangioma:
Infantile hemangioma, occurring in 4.5% of infants under one year of age, is the most frequently observed benign tumor4-6. In 90% of cases, these tumors are not serious, but in some cases they are harmful. 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 fruitful cooperation between the University Hospital and Pierre Fabre, this chance discovery became a concrete reality in 2014, with the global commercialization of the first prescription drug to treat severe infantile hemangioma.
Realizing that families were seriously lacking information, Pierre Fabre laboratories set up an extensive French website aimed at parents of children presenting with infantile hemangioma, to provide them with all the information they needed and help them determine the best course of action from birth onwards. Rapid detection of infantile hemangioma enables better management and limits the risk of sequelae. For more information: https://www.hemangiome.com/
About rare diseases
A disease is considered rare when it affects less than 1 person in 2000, (i.e., a few dozen or hundreds of patients for a pathology). There are between 5000 and 8000 rare diseases7 (neuromuscular, metabolic, infectious, autoimmune, rare cancers, etc.) affecting 3 million people in France, 30 million in Europe, and over 300 million patients worldwide8.
Even if they individually affect few patients, they impact a significant proportion of the population, thus constituting a real public health issue in all regions of the world.
About Pierre Fabre Laboratories
Pierre Fabre Laboratories is the world's second-largest dermo-cosmetics company and one of Europe's leading pharmaceutical companies. Its portfolio includes several international brands and medical franchises such as Pierre Fabre Innovative Oncology, Pierre Fabre Medical Dermatology, Pierre Fabre Pharmaceutical Care, Eau Thermale Avène, Ducray, A-Derma, Klorane, René Furterer, Même Cosmetics , Naturactive , Elgydium, Inava and Arthrodont.
In 2023, Pierre Fabre Laboratories posted 2.83 billion euros in revenue, 70% of which came from international sales in 120 countries. Historically based in the southwest of France and manufacturing 95% of its products in France, Pierre Fabre Laboratories employs over 10,000 people worldwide. Its annual R&D budget amounts to nearly 200 million euros, of which about 50% is dedicated to targeted therapies in oncology and 40% to skin health and care solutions.
Pierre Fabre Laboratories' majority shareholder (86%) is the eponymous Foundation, which is recognized by the French government as being a public-interest foundation. This capital structure guarantees the company's independence and long-term vision. Dividends paid to the Pierre Fabre Foundation enable the latter to design and finance humanitarian healthcare-access programs in developing countries. Employees are the company's secondary shareholder, through an international employee shareholding plan.
Pierre Fabre Laboratories’ sustainability policy has been assessed by the independent AFNOR Certification body and has been awarded the "Exemplary" level of its CSR label (ISO 26 000 standard for sustainable development).
For more information, visit www.pierre-fabre.com, @PierreFabre.
References:
1 https://www.rarediseaseday.org/
2 Blanchet-Bardon,, et al . . Association of glycerol and paraffin in the treatment of ichthyosis in children: an international, multicentric, randomized, controlled, double-blind study: Glycerol and paraffin in ichthyosis. J JEADV 2012, 26(8), 1014–1019. https://doi.org/10.1111/j.1468-3083.2011.04304.x
3 El Hachem et al., Ichthyosis: multinational European study on patient characteristics and body sites involved with impact on quality of life, British Journal of Dermatology
4 Léauté-Labreze et al – Infantile Haemangioma –Lancet 2017 Jul 1;390 (10089): 85-94
5 Munden et al – Incidence and demographics of IH – BJD 2014, 170; 907-913
6 Volc-Platzer et al. – Poster ESPD 2014
7 https://www.ema.europa.eu/en/human-regulatory/overview/orphan-designation-overview
8 https://www.inserm.fr/c-est-quoi/300-millions-patients-quand-meme-c-est-quoi-maladies-rares/
Press Contact:
Laurence MARCHAL
laurence.marchal@pierre-fabre.com
07 88 88 54 47