Rare diseases, a new area of innovation

Over 300M patients worldwide suffer from a rare disease. There are between 5,000 and 8,000 rare diseases (i.e., diseases that affect less than 1 in 2,000 people), and 95% of them receive no treatment. As such, they are a serious public health challenge across the world. In this area, more than any other, partnerships are essential in order to move forward and develop new treatments.

Treating X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED).

In partnership with the EspeRare Foundation, Pierre Fabre is working to develop an innovative prenatal therapy to treat a rare form of ectodermal dysplasia called XLHED, a genetic disorder affecting 500 newborn boys every year in Europe and the US. The EDELIFE clinical trial involves women who are pregnant with a male fetus carrying the gene responsible for the disease. It began in late 2021 in Europe and in 2022 in the US. While patient recruitment was difficult at first, as the global birth rate is slowing, it gained pace in late 2023.

Improving the treatment of a very rare lymphoid proliferation.

In oncology, Pierre Fabre has been working with the California-based biotech Atara Biotherapeutics since 2021 to develop a treatment for post- transplantation lymphoproliferative disorder linked to the Epstein-Barr virus. EBVALLO® became the first allogeneic immunotherapy aimed at patients affected by this in very rare tumour occurring after surgical graft or spinal cord transplantation when patients receive immunosuppressive agents.

EBVALLO® is recommended as second-line therapy after at least 1 unsuccessful prior treatment in adult patients and pediatric patients (aged 2 and older). It was approved by the European Medicines Agency (EMA) in 2022 and in the United Kingdom in 2023. EBVALLO® has been marketed in Germany and Austria since July 2023. It is also available in France as part of an early access program.

Supporting parents faced with infantile hemangioma   

Infantile hemangioma affects 4.5% of infants under the age of one year, making it the most commonly observed skin tumor. Rapid detection of infantile hemangioma enables better management and limits the risk of sequelae. In partnership with the dermatology department of the Bordeaux University Hospital, Pierre Fabre Laboratories has developed the only treatment approved in the world for treating this pediatric pathology. In view of an acute lack of information for parents, Pierre Fabre has also developed a very comprehensive informative website, hemangiome.com. In 2023, the website logged nearly 16,000 sessions.

Improving the treatment of ichthyosis 

Ichthyosis is a rare chronic disease that severely affects the skin by forming persistent dryness, hyperkeratosis, desquamation associated with erythema, pruritus and sweating disorders. Depending on the genetic form of ichthyosis, other symptoms may also occur, such as the appearance of painful cracks or fissures in the folds and joints. This pain can make life particularly difficult and incapacitating. Pierre Fabre Laboratories is committed to improving the quality of life of patients affected both physically and in their social interactions.

In 2023, a groundbreaking study was conducted with four European associations and included 384 participating patients in four European countries: France, Italy, Spain and the United Kingdom. The results show that more than half of the patients report that they suffer from tingling and itching. And more than 25% report stinging and burning sensations. This study highlights, for example, that the impact of visible skin diseases goes far beyond physical symptoms. The negative effect on quality of life and the consequences of stigmatization must be assessed in all patients in order to adequately treat the physical, psychological and social disabilities associated with ichthyosis.