Scientist in laboratory.

Life-changing treatments

EB is an incredibly painful genetic skin blistering condition that causes life-long pain and disability. There is hope though.

DEBRA’s ‘A Life Free of Pain’ appeal aims to raise £5m by the end of 2023 to accelerate our drug repurposing programme, to fund life-changing treatments for people with all types of EB, and to enable us to continue to provide EB community support and healthcare.

Please read on to find out more about some of the current research we are funding for potential life-changing treatments that could radically improve quality of life for people living with EB.

Potential mouth/throat spray treatment to improve eating and swallowing

One of the symptoms of dystrophic epidermolysis bullosa (DEB) can be blistering, ulcerations, thickening, and scarring of the tissue within the throat. This can cause extreme pain and can make eating and swallowing difficult.

To address and ease these symptoms, researchers at the University of Birmingham are investigating ways in which a new spray delivery system could be developed as both a treatment and preventative strategy to reduce scarring inside the throat.

The objectives of this project are to:

• formulate, with clinicians and patient groups, an oral spray that can be used for delivery into the cheek
• demonstrate that the system can retain its effectiveness during a period of storage and spraying
• develop a manufacturing process for this system
• create a phase 1 clinical trial to test the effectiveness of this potential treatment

Potential treatment to reduce scarring

Patients with dystrophic epidermolysis bullosa (DEB), especially those with the recessive form of the disease (RDEB), have extremely fragile skin including inside the mouth, cheeks, and on the lips. This can result in severe skin and oral blisters that heal with extensive scarring. Many RDEB patients also suffer from an abnormal tightening or narrowing of the oesophagus, and contracture and fusion of the digits, which results in deformity of the hands and feet with the fingers and toes becoming fused together.

To combat the above symptoms, the Decorin Gel project is investigating the potential of an engineered form of the naturally occurring human protein, Decorin, as an anti-scarring agent.

The first objective of the Decorin gel project is to manufacture, develop and test a simple, stable, gel formulation which is suitable for human clinical trials with the objective of delivering a gel treatment that can reduce scarring for patients with Dystrophic Epidermolysis Bullosa, which accounts for 25% of all cases.

Potential skin treatment to improve breathing

EB affecting the patient’s airway is rare, thankfully, but for those affected the condition can lead to severe breathing problems because of the scarring. Those affected, with Junctional EB (JEB), have breathing tubes that are so small that it would be like breathing through a straw. Clinical options are severely limited with the only way of addressing a narrowing airway currently being to dilate the airway with a balloon. This can help alleviate the immediate narrowing, but the additional trauma can lead to further scarring.

In response to this symptom, a potential treatment is being investigated which could improve scarring inside the throat by growing specialised skin for the patient’s airway.

This research project, which is at pre-clinical stage without any current patient involvement, aims to understand the process and develop ways in treating it, particularly by developing novel ways of growing specialised skin specifically for the airway. The hope is that by tackling the airway, in the future other areas can be targeted using similar techniques.

 

DEBRA's first drug repurposing clinical trial for EB

The trial will use an existing anti-inflammatory drug (apremilast) which is licensed to treat patients with psoriasis. Encouraging results published after an initial small trial, showed that it appears to reduce blistering in patients who have the severe form of epidermolysis bullosa simplex (EBS). We are now funding a larger trial to measure not only blistering but also whether it could improve quality of life for people with the severe form of EBS by reducing pain and itch.

Using treatments that successfully treat other inflammatory skin conditions such as psoriasis, and are already available within the NHS, means we could find treatments for EB sooner. This is the first of what we hope will be many clinical trials that we will fund which could take us a step closer to having approved drug treatments for EB.