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    Your support of DEBRA International or a national EB group enables us to provide the best quality of life for families and individuals affected by EB.

Donation Account: IBAN AT65 6000 0005 1004 5254, BIC BAWAATWW, DEBRA International, Am Heumarkt 27/1, 1030 Vienna

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Therapy development

What types of therapy development is DEBRA funding?

DEBRA International funds research into a wide range of types of therapy because it is unlikely that any one therapy technology will be suitable for all types of EB, or even all patients with a particular type of EB – and DEBRA supports finding better treatments for all people with EB.

Therapy development is an absolute priority. At present there is no cure, and no treatment that makes a significant difference to patients with any form of EB. Treatment is limited to chronic wound care and pain control. As skin is inherently fragile and non-healing, even advanced products and treatments developed to date for other chronic wound conditions do not work for EB skin.

It is likely that eventual cures will combine various approaches currently in development, with novel technologies and therapeutic concepts as yet to emerge from fundamental research into EB.

Research is progressing rapidly, with several potential therapies now entering clinical trials. None of the therapies currently in, or entering clinical trials is the 'magic bullet' – each has advantages and disadvantages, and extensive further research and development is required to refine concepts and processes to yield safer, more effective and patient-friendly treatments.

Nevertheless, it is likely that some treatments will become available over the next few years which will represent a step-change in at least symptom relief for at least some people with EB.

Why do we need so many different types of therapy?

It is very unlikely that any one therapeutic technology will be suitable for all types of EB. Just as different types of EB differ in the nature of the genetic fault, the technologies vary in how they work. Each technology has its own characteristics, making it more, or less, suited to being used to treat a particular type of EB. While seeking always to develop technology to minimise risks of therapy, it is important to recognise that no therapy can ever be guaranteed to be risk-free – the benefits have to be balanced against the risks.

Having a range of options will mean that the patient, and clinician will have a choice of how best to treat any individual. In fact, it is quite likely in the future that a clinician will select from the 'treatment menu' a mixture of treatments, according to the patient's needs and wishes, balancing benefits and risks.

The challenge in therapy development is different in different types of EB, and also determined by whether it is inherited as a recessive or dominant condition. For example, in the case of recessive EB, it is known that an increase in the amount of correctly functioning protein over a certain threshold will correct the symptoms. In dominantly inherited types of EB it has generally been believed to be necessary to stop the defective gene from functioning since it will overpower or dominate” any correctly functioning gene. However, recent data suggests that, if the defective protein can be suppressed sufficiently, symptoms can be largely eliminated.

Different patients will have different perspectives on what balance they want: someone with a severe form of EB might be happy to take a greater risk in the hope of a cure, or just want a particularly bad non-healing patch or skin treated; someone with mild EB probably wouldn't want to have a high-risk treatment but is willing to have the inconvenience of rubbing a cream onto affected parts twice daily.

Types of therapy

Ideally, a therapy for EB would be a safe, once-only, systemic (whole-body) treatment that resulted in a lifetime cure. Such a therapy is still some way off, although emerging therapies for EB include gene-, protein-, cell- and drug-therapies. Most of the types of therapy currently being developed fall into one of the following categories, though increasingly, therapies combine multiple technologies to try to increase efficacy and safety.

Treating EB can target:

  • Correcting the faulty gene by introducing copies of a correct version of the gene (or for dominant types of EB stopping the faulty copy of the gene working) in the patient’s own skin cells (gene therapy).
  • Providing enough of the correctly functioning protein, usually made in the laboratory, which is missing or faulty in people with EB (protein therapy).
  • Providing  cells which already carry a correct copy of the EB gene, from a healthy donor who does not have EB (cell therapy).
  • Providing a 'drug' which can increase or decrease the activity of EB-associated genes, or other genes, such that the skin can work more like normal skin and be stronger (drug or molecular therapy).