Welcome to the DEBRA International Newsletter

Welcome to the September edition of the DEBRA International Newsletter. We have lots to update you on so here is a summary of whats to come:

• The DEBRA International Congress 2011: Fast approaching
• EBEU Project: Creating a Network of EB Centres
• A Roundtable Meeting on Patient Barriers to Participation in Clinical Trials
• Congratulations to Members Who Received a DEBRA International Small Grant
• Nominations for the DEBRA International Executive Committee?
• Research News
• EB Awareness Week
• A Change of Face for the International EB Forum
• Could You Host a Future DEBRA International Congress?

The DEBRA International Congress 2011: Fast Approaching

As most of you already know, this year’s DEBRA International Congress will be held in Groningen, The Netherlands from the 27th to 30th October. There is an excellent line-up this year, including a special day focusing on best clinical practice in EB care and a morning of presentations from young researchers at the cutting edge of EB research. For more information, and to access the conference programme click here

We would also like to encourage all member groups to contribute to the Congress by providing a brief update of their activities. A questionnaire to do this has been circulated by John Dart and should be returned by October 9th. John is happy to supply you with another, should you require it.

EBEU Project: Creating a Network of EB Centres

The EB House in Austria is leading an exciting new initiative, referred to as EBEU, which aims to establish a network of EB centres across Europe. The centres included in the network will range from true ‘centres of expertise’ (CoE), as defined by the European Union, to individual medical professionals who take care of EB patients. It is hard to overstate the value of such a network for the purposes of knowledge exchange and training. In addition, as EB is such a rare condition, clinical trials to test new treatments will most likely need to be carried out in multiple centres. EBEU will allow a support structure for such multi-centre trials and will facilitate the recruitment of sufficient numbers of patients to allow their success. Dr. Gabriele Pohla-Gubo, has contacted known EB experts across the EU and is encouraged by the initial response to the initiative. If they have not already done so, please encourage the relevant people in your country to complete the initial questionnaire which can be obtained from Dr. Gabriele Pohla-Gubo. Ultimately it is hoped to expand the EBEU network beyond the borders of the EU.

A Roundtable Meeting on Patient Barriers to Participation in Clinical Trials

The national DEBRA groups and DEBRA International are eager to see developments in science and medicine translated into benefits for EB patients. Clinical trials (or the testing of treatments in human patients) will be an essential feature of this process. In order to ensure that clinical trials are successful and effective it will be necessary to have participation by patients. Anecdotal evidence suggests that groups currently undertaking clinical trials in the area of EB are struggling to get the required patient numbers. This has the potential to result in unsuccessful clinical trials and might prove a barrier to those considering undertaking EB clinical trials in the future. 

In order to begin to address this issue, a round table discussion will be held during the DEBRA International Congress in Groningen, to tease out attitudes to clinical trials among the EB community. The group will be comprised of patients and patient family members and will involve a semi-structured discussion around the issues. It will take place from 3-4:30pm on Thurs 27th October.

We still have a few places to fill for this meeting and would be very grateful to hear from anyone who would be willing to take part. If you are interested or would like more information please contact Dr. Avril Kennan in DEBRA Ireland.

Congratulations to Members Who Received a DEBRA International Small Grant

In 2009 and 2010, DEBRA International invited applications from member groups to apply for small grants. The purpose of these grants was to enable the undertaking of projects, for the benefit of people with EB, which it would not have otherwise been possible to fund. We were very pleased to be able to support some interesting projects, including those listed below.

Argentina - €2185  (Community nurse training)

Australia - €3500  (EB Nurse rapid response programme)

Bosnia & Herzegovina - €3000 (Capacity building (materials))

Bulgaria - €3300  (Consumables for molecular diagnosis)

Chile - €1907  (Patient held medical records)

Poland - €3000 (Capacity building (materials))

Portugal - €200  (Legal registration fee)

Nominations for the DEBRA International Executive Committee?

Is there someone in your organisation who would be a valuable addition to the DEBRA International Executive Committee? Every year one-third of this committee retires by rotation and there is an election to fill the resulting places. At this year’s General Assembly in Groningen there will be four places to fill and we are calling for member groups to submit nominations of candidates to stand for election. All nominations must be received by 26 September and should be accompanied by a short biography.

Please contact Anna Kemble Welch or John Dart  for more information prior to submitting a nomination.

Research news

The drive for treatments for EB is gaining momentum and there have been a number of genuinely exciting developments in recent times. Below are some of the highlights from the last couple of years…

The biggest ever investment into a potential treatment for EB

A California-based company, Lotus Tissue Repair, has recently received $26 million from investors to develop a possible treatment for recessive dystrophic EB. This is an astonishing amount of money for such a rare condition and we are very pleased to see that it was possible to attract such large-scale funding. The approach in development is called protein replacement therapy and involves the administration into the skin of lab-made collagen 7 protein. To date it has only been tested in mice but the results were very promising. Following the injections the mice showed stronger skin with less blistering. Of course it is very early days for this approach and it will require many years of testing to determine that it is both safe and effective. Those developing the therapy, including Dr. Mark de Souza, CEO of Lotus Tissue Repair, are making plans to undertake human clinical trials and test the treatment in people with recessive dystrophic EB. For a press release announcing the funding click here

During a recent visit to Ireland Dr. Mark de Souza spoke to national television station TV3 about the recent investment. To view the short news piece click here

Large-Scale Funding for potential therapy for dominant dystrophic EB

In late 2009, a large multi-disciplinary group of scientists in Stanford University, California, led by Prof. Alfred Lane, received $11.7 million to develop a possible treatment for dominant dystrophic EB (DDEB). The aim of the research is to use a relatively new technology in stem cell research, known as iPS cells (induced pluripotent stem cells) to treat the condition. iPS cells are cells taken from an adult but which have been ‘reprogrammed’ so that they can become any cell type and therefore overcome many of the problems associated with the use of embryonic stem cells. In this project, the scientists are working on taking cells from DDEB patients, using them to create iPS cells and then correcting the genetic fault in them. These corrected iPS cells will be converted to skin cells and grown into ‘sheets’ in the lab, which can then be used for skin grafts for the patient. As the genetic fault has been corrected in them, the grafted skin sheets should behave like normal skin and be resistant to blistering.

Pharmaceutical GalaxoSmithKline develop interest in EB treatments

In June of this year Professor Irwin McClean, of the University of Dundee in Scotland, entered an agreement with the pharmaceutical giant GalaxoSmithKline (GSK) to develop treatments for recessive dystrophic EB. This collaboration will allow the combining of the drug discovery capabilities of GSK with Prof. McLean’s long-time expertise in EB research. The challenges of bringing a potential treatment from the lab, all the way through to market, are immense and many believe can only be done by collaboration with industry. This agreement therefore, is to be particularly welcomed and will hopefully prove fruitful in the coming years.

For more information on any of these stories please contact Dr. Avril Kennan in DEBRA Ireland. 

EB Awareness Week

International EB awareness week will take place from October 25th -31st. Using this week to raise awareness of EB across the globe will help patients in their day-to-day lives and will support the activities of all groups working to improve those lives. For more information, or to access publicity tools to support you in participating in this week, please contact Gena Brummit 

A Change of Face for the International EB Forum

Having given much consideration to the value of the International EB Forum as it currently exists, and in the context of other more recent initiatives, Heidi Ellingsen Silseth and John Dart would like to inform the community that the forum will not be continuing. Users of the forum may find the US-based ‘EB care lists’ network useful and there are plans to develop the DEBRA International website in the near future, to provide up-to-date advice to professionals working in the field. The DEBRA International committee would like to give particular thanks to Heidi for her commitment and hard work as administrator of the forum which has provided such a useful resource for EB healthcare professionals for many years.

Could You Host a Future DEBRA International Congress?

As you know, the DEBRA International Congress is held once a year, in the autumn, to allow us to come together and exchange knowledge on our particular role in helping the lives of EB patients. The Congress moves location every year and we are looking for expressions of interest to host the event in the future.

The advantages to hosting the Congress are many, including increased networking with EB professionals from across the world, an opportunity to improve your organisation’s profile and a chance to increase engagement with your own patient population. For more detailed information please contact John Dart.