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04.12.2014

Exciting research development in EB stem-cell treatments

Three research groups from around the world have recently simultaneously published promising results in developing a new therapy technology called "induced pluripotent stem cells' (iPSC) for EB.

There are many research questions still to be answered before a safe, effective treatment based on iPSC will reach the clinic. However, there is now strong evidence from these separate studies to support the idea that this approach can correct the underlying cause of EB.

What if everyone with EB could have their very own designer 'tissue-repair kit'? An endless supply of cells, tailored to their own, unique, body, which helped to repair the damage that happened each time their fragile skin and perhaps other tissues were put under stress. Not only that, but eventually even helped to prevent the damage happening in the first place?

EB researchers are working on creating just such a solution for people with DEB, JEB and EBS. Three independent research groups, working in Europe, Japan and the USA have all simultaneously reported advances in developing the technology to produce such personalised 'repair kits' of stem cells.

What is DEBRA doing?

DEBRA has supported several groups involved in iPSC research, including a project to start EB iPSC research in Vienna, Austria (Josef Penninger). DEBRA is also supporting an international research group with partners in Germany (Monique Aumailley), the Netherlands (members of the same Dutch group whose work is reported here) and Minnesota (Jakub Tolar) and led by Dennis Roop in Colorado. This major program grant is making good progress in developing a method to generate iPSC without the use of viral vectors, as reported in these three studies. The use of an alternative method to generate iPSC for JEB, RDEB and EBS, which avoids random integration into the human genome as occurs with viral vectors, is anticipated to be safer and more effective at creating cells that will persist longer in the skin.

What next?

There are many technical questions still to be answered – while the concept of iPSC therapy for EB is very promising, ensuring the safety of iPSC and skin cells derived from them is paramount. In addition, the conditions have to be developed to get the human skin cells produced to survive more than a few weeks, and to show that they will continue to produce the necessary amounts of therapeutic protein to maintain strong skin. Furthermore, there are technical and manufacturing issues that have to be addressed to create reliable processes. However, it is reported that both the Stanford and Columbia groups have applied for funding to start to develop human clinical trials for iPSC-based treatments.

Dr Marjon Pasmooij, one of the EB iPSC researchers at the University of Groningen, University Medical Center, says: "It is great that three individual groups have published at the same time in Science Translational Medicine, and are working on using the iPSc-technology to cure EB. Before the iPSC-technology can be used for the clinic, more studies are needed, though the progress described in the three studies is a significant step forward and very hopeful."

See the publication abstracts on the website of Science Translational Medicine:

Dr. Clare Robinson, Head of Research, DEBRA International

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