What is the EI Cure Project?
How did the EI Cure Project get started?
Despite all the positivity created within our EI support group, we are really just finding ways to manage symptoms and make daily life more tolerable. What we are all very much interested in is finding a cure for EI, because it really is a condition that has a big impact on quality of life, and we'll talk more about that in Living with EI.
EI is what’s known as a ‘Rare disease’ because it affects only 1 in 300,000 people. So here, in Switzerland, there are at most 20 people who have EI, but I’ve never met any of them. In fact, we have someone in the support group who is the only person with EI in their whole country. That’s how rare it is!
Because EI is so rare, it also gets referred to as an ‘Orphan disease’ because the rarity means that there is no financial incentive for stakeholders to invest in research. There are new policies in place which provide financial incentives to researchers trying to get their product or treatment available for clinical use, however we still need to do a lot of preclinical research in order to create a product. Until we have a tried and tested product on our hands, we can’t gain access to orphan disease grant money. This means that we need to fund the preclinical research in order to move forwards.
Between 2017 and 2019, two important things happened.
The first is that a paper was published about gene-editing for EI written by Dr Oliver March. He was working on a PhD project run by Dr Julia Reichelt. This paper was pivotal because it showed that it’s possible to switch-off the faulty gene that causes EI, using a gene-editing technique known as TALENs. In their lab, they were able to take a sample of EI tissue, used TALENs to edit the variant on the KRT10 gene, and then used the gene-corrected tissue to grow new sheets of healthy skin.
The second important event, another paper was published by Dr Tobias Hirsch, under the guidance of Dr Michele de Luca of Italy. An 8-year old boy with with a similar type of skin-fragility disorder presented in a dermatology clinic in Germany. He had lost 80% of his epidermis, which is the top layer of his skin, which meant that 80% of his body was a raw wound. They had tried everything to help him, and nothing was working. The doctors and researchers put in an emergency request to approve the gene therapy technique that allows addition of a functional copy of a faulty gene to use for this one patient. They grew sheets of gene-corrected skin and grafted them onto the boy’s raw wounds.
It worked, and the boy now has healthy skin and reportedly loves to play football!
Unfortunately, the study by Dr March and Dr Reichelt is the only paper published about gene-editing for EI, and that was 5 years ago. That’s not to say that no work has been done, Dr Amy Paller from FIRST has been making great strides in re-purposing biologic drugs for the ichthyoses, but again, that’s not a cure, it will just relieve symptoms for some with EI, and it’s not yet possible to predict who would benefit and these are very limited-use drugs at present. Thankfully a lot of progress has been made with gene-editing via CRISPR for other more prevalent conditions, but unfortunately there is no budget for EI research.
This all just means that we have to make it happen for ourselves.
At the end of 2022, I was invited to take the role of co-host and EI advocate for a special EI Webinar conducted by the UK Ichthyosis Support Group. During this webinar I was able to connect with Dr Reichelt and Professor Schmuth, and they suggested that we meet in the weeks that followed the webinar to formally discuss the future of research for EI.
We talked about past research, including the gene-corrected skin graft used for the boy from Germany, current developments in the increasing safety profile of CRISPR gene-editing, and what we would envisage a cure for EI to be like. We decided that a skin graft is not favourable, because it is a very invasive medical procedure, and that we would prefer to have a personalised treatment involving either a type of injection or a topical cream. They did state that whilst they are hoping to achieve this, getting the gene-editing technology through the skin barrier continues to be a challenge (Read more here), and this is why we still need to do pre-clinical research. We also discussed time-lines and funding needs. Dr Reichelt and Professor Schmuth both agreed that we now have the technology, knowledge, and the expertise to make a cure a reality, but they are simply lacking the funds to motivate the project.
We made a multi-phase plan, the first part of which is currently happening!
Phase 1 (Timescale 3-5 years): Raise £425,000 (CHF480,000 / US$540,000) to fund 3 pre-clinical research projects for 3 years to find and test a personalised gene-editing solution for all types of EI.
Phase 2 (Timescale 3-5 years): Clinical trials
Phase 3 (Timescale 3-5 years): Disseminate trial findings and translate into clinical practice
To support our plan, we have established Not-for-Profit organisations in Switzerland, the UK, the US, and Canada in order to allow as many people and big corporations to make their donations with tax-exemption as possible. In future we will seek to establish organisations in more countries, because in order for us to be successful for a disease as rare as EI, the effort must be a global one. Please find our charitable aims here.
Once we have proof-of-concept data through our pre-clinical research, we will then be better equipped to apply for further research grants and funding from orphan disease organisations. However, at present, we need to fund the preclinical research in order to be eligible for these types of grant. Right now, the EI Cure Project needs to champion preclinical research to get EI more attention.
Our aim of getting more attention for EI has been working, and I’m delighted to say that since founding the EI Cure Project, we have welcomed many more Doctors, Researchers, and Scientists, all of whom want to find better treatments for EI. We now have a whole team of researchers working to help find better solutions for EI, and I have to tell you that they are all wonderful and caring people who want to work with our organisation to ensure that future treatments are designed to be both accessible and desirable to our EI community. Please visit the “Meet the Researchers” page to learn more about them.
On our homepage, and below you’ll find a picture of my husband and our kids standing in front of this beautiful lake in Lenzerheide, Switzerland with their arms stretched up high. I chose this image because it was one of those good days, and because to do this, to find a cure for EI, we are going to have to reach for the sky!
