iStock_000009534994XSmallPeople living with EB will hear the term ‘clinical trial’ mentioned now and again but what are clinical trials and why are they important for EB? This section of the website aims to inform you on clinical research and, in particular, clinical trials and the important role they play in the journey to effective treatments for EB.

Clinical research is hard to define neatly but, broadly, it is research that involves people, or samples from people, for the purpose of improving medical care. There are many different types of clinical research but it includes studies aimed at improving the prevention, diagnosis and treatment of human illness. It differs from clinical practice in that its major purpose is to gather evidence and it uses scientific method. Clinical trials are a very important type of clinical research and the remainder of this section focuses on them.


EB and Clinical Trials

There are many different types of EB research being undertaken around the world. Some of this research aims to improve our understanding of the underlying mechanisms of EB and is referred to as basic or fundamental research. Other research aims is to translate the findings from basic research into therapies for EB and this is referred to as translational research. If a potential therapy shows promise, in lab tests on cells and animal models, the next step is to test it in humans, in a process called a clinical trial.

In order for a potential treatment to progress to an actual treatment which is widely available to patients, it must be demonstrated, through the process of a clinical trial, that the treatment is both safe (or that the benefits outweigh the risks) and that it is more effective than current treatments (if any exist).

Much of the research into treatments for EB has reached, or is approaching the stage, of clinical trials. There are currently a number of EB clinical trials being undertaken in different parts of the world and the number is likely to grow as time goes on. Once you have had a look at our FAQ on clinical trials, see here for the latest details on these trials.

Clinical trials are an essential part of progressing the medical care for all people with EB and patients play a central part in this process


More information

It is not possible to have a complete description of every aspect of clinical research on this site but for more information, please consider looking at these excellent resources:


Frequently Asked Questions

Clinical trials can broadly be defined as health-related research studies that involve humans. Often clinical trials are ‘interventional’, involving the testing of an intervention (a medicine, device or approach to treatment) to assess whether it is safe and effective. In the case of EB, this includes trials to test wound healing treatments, cell therapies and gene transfer technologies. Clinical trials may also be observational, where subjects are observed and their outcomes measured. In the case of EB, an example of an observational study is one which attempts to relate underlying genetic cause to the symptoms observed in patients.

Interventional clinical trials are usually initiated as a follow-on to promising laboratory research results. They are an essential step in the process of taking a new treatment all the way through, from an idea in a research lab, to a widely available treatment for patients. The primary purposes of interventional clinical trials are to check the safety of a particular approach to treatment and then, to check how effective it is.

All clinical trials have participation criteria, referred to as the inclusion and exclusion criteria. The purpose of these criteria is to determine the suitability of any particular individual to take part in a clinical trial. They include specifications such as the type of EB, age, ability to travel to the clinical trial location, medical history etc. You doctor may be able to advise you on the medical inclusion and exclusion criteria. The purpose of these criteria is to ensure patient safety and that the outcomes of the trial are scientifically valid. Bear in mind that, even if you fit the inclusion and exclusion criteria, you may need to undergo additional tests to confirm your suitability.

Every clinical trial is unique but broadly they involve the following steps:

  • An initial assessment to check whether you are an appropriate candidate for the trial. To be considered suitable, you must fit the specifications of the inclusion and exclusion criteria (see above).
  • A detailed explanation of all aspects of the clinical trial, including its purpose, the commitment required from you and the possible risks and benefits, will be provided to you. You will have the opportunity to ask as many questions as required, in or to ensure that you are in a position to make an informed choice on whether or not to participate.
  • Once everything has been fully explained, you will have the option to sign a consent form, agreeing to participate in the trial. Bear in mind that you are entitled to leave the trial at any time, without jeopardising your medical care or your legal rights.
  • Once enrolled in the trial, you might need to undergo a more detailed health examination. In the case of EB, this might entail a confirmation of the precise genetic faults underlying your condition, a skin examination, the photographing of wounds etc.
  • You are likely to have several visits to the trial location during and after the study and it might be necessary to have tests undertaken for a period of time after the intervention.
  • The outcomes of the trial should be made available to you, once it is complete.

The risks associated with partaking in a clinical trial vary enormously. For some trials, the risk is negligible while for others (particularly those that involve a major intervention or one that has not been tested in other patient populations previously) it may be higher. The known risks will have been carefully analysed by an ethics committee however and will be fully explained to you, prior to your decision on enrolling in a trial. Occasionally there may be unforeseen complications that arise as a trial progresses but every effort will be made to minimise their impact. Bear in mind that there are risks associated with taking all medicines.

Clinical trials are often associated with the fear of being a ‘lab rat’. Don’t make any such presumptions about clinical trials however, without fully understanding the different types of trials and the processes involved. If you, or someone you care for, live with EB, take the time understand a little more about clinical trials, so that you will be able to make an informed decision on any EB clinical trial that you might be eligible to partake in. 

  • You will be helping to progress the development of treatments for EB, in a very real and tangible way.
  • Clinical trials may provide the opportunity to access a new form of treatment, not widely available.
  • You will receive excellent medical care while enrolled in a clinical trial as the investigators undertaking the trial are obliged to provide care to best international standards.
  • As many who live with EB have already learned, it can be very advantageous to take some responsibility for your own healthcare and enrolment in a clinical trial provides this opportunity.
  • What is the purpose of the trial?
  • What are the potential risks associated with partaking in the trial?
  • What are the potential benefits associated with partaking in the trial?
  • What time and travel commitments are required? It is important to carefully consider whether you can manage the commitments involved, before agreeing to partake in a trial.
  • What, if any, costs am I likely to incur?
  • Who is my point of contact, if I need to talk to someone about the trial?

An appropriately run clinical trial should:

  • Have a sponsor (responsible for the management and financing of the trial)
  • Have a principal investigator (responsible for conducting the trial at the trial location)
  • Be approved by the appropriate national regulator (responsible for quality control of the trial and adherence to national/international regulations and guidelines)
  • Be approved by an ethics committee or institutional review board (to protect the rights, safety, and well-being of participants)

There are some exceptions (e.g. trials involving bone marrow transplant) but for most clinical trials, you will not have to pay money to participate in them.
Take the time to look into the experience and qualifications of the team undertaking the trial (you might consider asking your doctor’s help with this). In particular, it is important that, in the case of severe EB, those conducting the trial are very familiar with EB and its particular complications.
Be mindful that there are some unscrupulous organisations out there that offer very expensive treatments, with no proven medical benefit. This is particularly so in the area of stem cell research. If you would like to know more, take a look at the Closer Look at Stem Cells website.

Yes and no. They are similar in that they are checked and monitored to the same standards as clinical trials for other more common conditions. They can differ in other ways however. Clinical trials for common conditions are usually carried out in up to 4 phases, with the final phases involving many participants. However, because EB is a rare condition, EB clinical trials tend to enrol smaller numbers of patients and may not go through as many phases. Also, for very severe forms of EB, a higher level of risk, associated with partaking in a trial may be deemed appropriate by ethics committees, than it would be for less severe conditions (you will be fully informed of any such risk, prior to deciding whether or not to participate).