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70% of rare genetic diseases start in childhood[1,2]
CASTRES, France, Feb. 23, 2024 /PRNewswire/ — Rare Disease Day® will be held on February 29, an opportunity for Pierre Fabre Laboratories to reiterate our desire to provide innovative prescription drugs to children, as young patients require appropriate treatments. Already recognized for our work in oncology and dermatology, for several years Pierre Fabre Laboratories has been involved in rare diseases, which affect more than 200 million children worldwide[1,2].
In this area more than any other, partnerships are essential for driving research forward and discovering new treatments.
Working with the EspeRare Foundation to treat XLHED:
Pierre Fabre Laboratories is committed, alongside the EspeRare Foundation, to developing an innovative in utero therapy for the most common form of ectodermal dysplasia, XLHED, a rare genetic disease that acts on structures including the sweat and respiratory glands, skin, hair and teeth, and affects 500 infants each year worldwide.
“As the mother of a little boy affected by Ectodermal Dysplasia, a rare and unknown genetic disease that permanently affects the sweat glands, hair, teeth and nails, I am deeply committed to the Association Française des Dysplasies Ectodermiques (AFDE). The association has been existing for more than 20 years and offers essential support to affected families who sometimes suffer from the difficult view of others and from medical wandering. We support families and make their daily lives easier. We organise national days and trips to encourage meetings and exchanges. We are also involved in research projects such as the EDELIFE clinical trial on the prenatal treatment of the most common form of the disease, XLHED, conducted by Pierre Fabre laboratories and the EspeRare Foundation. This opportunity to take part in medical research is a real opportunity for children and their families giving us new hope.” – Muriel Dubreuilh, President of Association Française des Dysplasies Ectodermiques (AFDE)
EDELIFE, a clinical study involving pregnant women carrying a fetus with the disease gene, was launched in late 2021. For more information: https://edelifeclinicaltrial.com/en-us/, Edelife clinical trial – Ectodermal dysplasia, Article from New England Journal of Medicine.
Partnering with Atara Biotherapeutics to treat a very rare lymphoproliferative disease (EBV+ PTLD):
In oncology, Pierre Fabre Laboratories and the Californian biotech Atara Biotherapeutics have been working in partnership since 2021 to treat relapsed or refractory Epstein-Barr virus positive post-transplant lymphoproliferative disease (EBV+ PTLD) in patients aged two years or over who have undergone at least one previous treatment.
This promising treatment was approved by the European Medicines Agency (EMA) in December 2022, and is currently marketed in Germany and Austria. In France, it has been available for patients as part of an early access program 2 (AP2) since July 2023.
In France in particular, in the context of a serious, rare and incapacitating disease with a bleak prognosis, tabelecleucel, an innovative orphan drug, could meet a non-covered medical need for around five children a year.
“Our companies’ complementary capabilities will expand access to the first allogeneic immunotherapy to use T cells from a healthy donor for patients all over the world who suffer from this rare form of cancer.” – Pascal Touchon, CEO of Atara Biotherapeutics, Inc.
Last December in Paris, this treatment won the 2023 Prix Galien France award in the Innovative Therapy Drugs category. This award is emblematic of scientific rigor, excellence and innovation, recognizing remarkable recent innovations in health care and publicly available. This therapeutic innovation will be put forward for the 2024 International Prix Galien, which will be awarded in Rome this June.
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 tumor[3-5]. 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.
For health care professionals, the provision of the Infantile Hemangioma Referral Score (IHReS), developed with the support of Pierre Fabre Laboratories, expedites the patient care pathway via early identification of patients to be referred to a specialist center (https://www.ihscoring.com).
“The general wait-and-see attitude that has prevailed around infantile hemangiomas must now be replaced with a more active approach. The IHReS score helps pediatricians and general practitioners identify hemangiomas with a risk of complications so the children can immediately be referred to a specialist center able to start treatment.” – Dr. Christine Labrèze, dermatologist at Bordeaux University Hospital
Working with Association Ichtyose France to improve management of ichthyosis
Dermatology is the branch of medicine that has the largest number of rare 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.
To understand and help improve patient quality of life, Pierre Fabre Laboratories, in collaboration with patient associations, is collecting data as part of the Visible Diseases of the Skin program (in particular, the ALL study an epidemiological survey conducted over 50,000 people in 20 countries).
In 2023, a specific study was conducted with four European ichthyosis organizations. Responses were received from 362 patients, enabling previously non-existent information to be collected about their experiences. The results were presented by each organization during the annual event with the patients’ families and experts.
Ichthyosis affects around 1% of all people[6]. Its visibility on the hands and face makes it very disabling from a very young age: 67% of patients in the study reported feeling excluded[6].
“Thank you Pierre Fabre […] for […] setting up this study, […] because, as sufferers of a rare disease, it’s important for us to be heard and acknowledged, and these figures are going to help us with that. Our long-term relationship with Pierre Fabre is a good illustration of the close links forged with patients and patient associations, year after year!” – Anne Audouze, President of Association Ichtyose France, a non-profit organization dedicated to ichthyosis
About rare diseases
The European Union defines a rare disease as a rare condition affecting fewer than one 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 diseases7 (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 worldwide[8].
Although they concern relatively few individual patients, they affect a significant proportion of the population, and emerge as a real global public health issue.
About Pierre Fabre Laboratories
For more information, please visit www.pierre-fabre.com, @PierreFabre.
1. https://www.rarediseaseday.org.
2. European Journal of Human Genetics (2020) 28:165–173.
3. Léauté-Labreze et al – Infantile Haemangioma –Lancet 2017 Jul 1;390 (10089): 85-94.
4. Munden et al – Incidence and demographics of IH – BJD 2014, 170; 907-913.
5. Volc-Platzer et al. – Poster ESPD 2014.
6. 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 (sous presse).
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
Source : Pierre Fabre Laboratories, committed to combating rare pediatric diseases via innovative therapies
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