Pierre Fabre Laboratories working to treat rare childhood skin diseases

By Kirsty Doolan

- Last updated on GMT

Pierre Fabre Laboratories said that dermatology sees the largest number of rare disorders across the world (Image: Getty)
Pierre Fabre Laboratories said that dermatology sees the largest number of rare disorders across the world (Image: Getty)

Related tags Skin kids Cosmetics derma beauty Personal care products clinical study skin diseases

To highlight Rare Disease Day on 29th February, French cosmetics and pharmaceutical business Pierre Fabre Laboratories, shared more on its work to address rare childhood diseases, which it said affects more than 200 million children worldwide.

Pierre Fabre Laboratories – which is the parent company of many pharmacy-favourite skin care brands such as Avene, A-Derma and Klorane – also shared that dermatology is the branch of medicine that sees the largest number of rare disorders worldwide, with around 500 reported, all with very different forms.

For one of its projects in this arena, the business has been working with non-profit the EspeRare Foundation​, to develop in-utero therapy for one the most common form of ectodermal dysplasia, XLHED. This rare genetic disease affects the functioning of the sweat and respiratory glands, skin, hair and teeth, and is said to affect around 500 infants each year across the globe. 
It launched a clinical study, Edelife,​ in late 2021, which works with pregnant women who are carrying a foetus with the disease gene.  
President of the Association Française des dysplasies ectodermiques (AFDE), Muriel Dubreuilh, whose son is affected by the rare disease, shared that the opportunity to take part in this medical research was “a real opportunity for children and their families – giving us new hope."

Gaining a better understanding of infantile hemangioma

The business also works with Bordeaux University Hospital to better understand infantile hemangioma, which is the most frequently observed benign tumour that occurs in 4.5% of infants under the age of one.  

The majority of these tumours are harmless, but sometimes they can be a danger.

In 2007, by chance the Bordeaux University Hospital discovered a molecule that was frequently used in cardiology was also effective to treat this paediatric skin disease.

The hospital and Pierre Fabre Laboratories worked together and in 2014 they saw the global commercialisation of the first prescription drug to treat severe infantile hemangioma.

To close the education gap for families affected by the disease in France, the company also set up a help and information website, and also also helped to develop the Infantile Hemangioma Referral Score (IHReS) for healthcare professionals to identify patients with the condition as early as possible. 

Improving the management of ichthyosis

Ichthyosis is a rare disease that significantly alters the skin's barrier function. The symptoms can range from mild yet unpleasant dry skin to more extreme cases, when it can be unbearable for the sufferer.

The disease affects around 1% of all people and is highly visibility on the hands and face, which makes it disabling from a very young age.

To better understand this disease, Pierre Fabre Laboratories has collaborated with patient associations to collect data as part of its Visible Diseases of the Skin program – in particular, a study named ALL, which is an epidemiological survey conducted with over 50,000 people in 20 different countries.

In 2023, using a study conducted with four European ichthyosis organisations, with responses from 362 patients, the team were able to collect previously non-existent information about the sufferer’s experiences, to help bring about greater understanding for those suffering with the condition as well as medical professionals. 

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