Epidermolysis Bullosa or EB is a group of rare and genetic disorders of the skin, characterised by skin fragility which can be severe and cause recurrent blistering of the skin in response to minor trauma or friction. It is caused by some of the tissues layers of the skin, in the dermis and epidermis, not sticking together properly.
In most cases, the effects of EB are seen at birth or shortly after. Some forms of EB are mild enough for the patients to manage but children with the most severe forms of EB have skin so fragile they are often referred to as ‘butterfly babies’.
The most significant problems in severe forms of EB are the life-long presence of blistering, wound infections and partially chronic wounds resulting in pain, scarring and immobility. Dressing changes to treat these wounds can take several hours each day and are extremely painful, often requiring the use of opioid drugs to manage the pain.
A large percentage of the body, including mucous membranes can be affected by wounds, resulting in broad physiological effects on the body including oesophageal strictures, nutritional problems, anaemia requiring transfusions, renal impairment, osteoporosis with bone fractures and decreased mobility.
Oleogel-S10 (AP101) is being developed as a prescription medicine for some types of EB including Dominant or Recessive dystrophic EB (DDEB, RDEB), Junctional EB and Kindler Syndrome. Oleogel-S10 is not currently being studied in patients with EB Simplex (EBS).
Oleogel-S10 is currently in an investigational global Phase III clinical trial, the EASE study, for people with severe EB wounds; however, it has already been approved in Europe for use in the treatment of partial thickness wounds (PTW) such as Grade II burns and split thickness skin graft wounds in adults.
It is estimated that there are more than 500,000 people living with EB worldwide. There is currently no known cure for EB. Treatment options vary greatly from country to country.
Disease severity differs greatly depending on the type/sub-type of EB. The condition has been divided into three main types depending where in the skin the problem occurs:
The most common type of EB, EB simplex is often the least severe type of EB, although often life-altering. EB simplex only affects the very top layer of the skin; blistering is often limited to specific areas, sometimes just restricted to the hands and feet and where clothing causes friction. Heat and humidity can also cause the wounding to happen or make it worse.
DOMINANT DYSTROPHIC AND RECESSIVE DYSTROPHIC EB (DEB):
DEB is one of the major forms of Epidermolysis Bullosa. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases involve widespread blistering and wounding that can lead to scarring and the deformity and rigidity of joints or in the eyes and mouth. This can lead to blindness and difficulty eating. In such cases, there is also a high chance of developing squamous cell carcinoma of the skin before the age of 35.The majority of DEB patients are managed by specialised centres.
JUNCTIONAL EPIDERMOLYSIS BULLOSA (JEB):
A rare sub-form of EB. JEB has a broad spectrum of severity from milder forms to the lethal form of generalised severe JEB with most children (87%) not surviving beyond the first year of life. For people with all forms of JEB, the most problematic wounds occur on the scalp and lower legs.