01. How can I get involved? Expand Please register your interest and let us know you would like to help us decide what research we fund. You will need to be a DEBRA member. If you are not yet a member, please see whether you are eligible to become one.
01. How do I join the team? Expand Please follow the steps above, you will need to use the unique code to join #TeamDEBRA.
01. RHEACELL phase 3 clinical trial on systemic stem cell therapy for wound healing in RDEB/JEB Expand This study is looking for children and adults with a confirmed diagnosis of RDEB or JEB. If you are interested in participating, please talk to your doctor about whether you meet the inclusion criteria and which study site (Birmingham or London in the UK or other sites across the world) would be suitable for you. Find out more
01. Share your experiences: before, during and after genetic/genomic testing Expand People living with EB and their families are invited to complete a survey that will take no more than 10 minutes. The NHS England National Genomics Education programme is committed to using patient voice to shape educational resources for healthcare professionals. This survey can be completed until 31 January 2024. Take the survey
01. Types of EB Expand Epidermolysis bullosa is a spectrum of diseases with symptoms that can be different from one person to the next. Different types of EB can be caused by changes in the genes for skin proteins like keratin and collagen. Within each type, symptoms can be more or less extreme and there are quite a few named sub-types of EB where a slightly different set of symptoms have been described by a researcher. In 2020 a DEBRA-funded expert consensus report was published that reclassified all genetic EB into one of four types: EB simplex EBS 70% of EB cases Keratin (Keratin-5 and Keratin-14) Epidermolysis bullosa simplex | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov) Dystrophic EB DEB 25% of EB cases Collagen (Collagen -7) Dystrophic epidermolysis bullosa | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov) Junctional EB JEB 5% of EB cases Laminin or collagen-17 Junctional epidermolysis bullosa | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov) Kindler EB KEB Less than 1% of EB cases Kindlin-1 Kindler syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov) This animation explains a bit about epidermolysis bullosa (EB) at the molecular level: The Genetic Alliance UK website provides information about genetic conditions in general.
01. What is Apremilast? Expand Apremilast is an existing anti-inflammatory drug which is licensed to treat patients with psoriasis.
01. What is Filsuvez® Expand Filsuvez® is a sterile gel containing birch bark extract that helps EB wounds to heal.
01. Why is this insights study so important? Expand The EB insights study will help ensure that the services and support that DEBRA offers to the EB community is in line with the key needs of the EB community. The insight will also help us to understand the most important issues affecting the EB community today and thus provide the focus to lobby for change tomorrow. The insights will also influence what research we fund in the future to find treatments and cures for EB. This project will provide the information and evidence we need to strengthen how we advocate for people living with EB to politicians, GPs, schools, local authorities – all the people who can help make the changes needed to help people live better with EB. In short it will help determine where our strategic focus should be as a charity to deliver the most for our members and the wider EB community. The more people who take part, the more representative it will be of the whole EB community. It is so important that we hear from people with all different types of EB, from different backgrounds and areas of the country, from people living with the condition to those people caring for or working with those with the condition, so that DEBRA can represent everyone affected by EB. It will be repeated every 2 years, so that we can respond to the changing needs of the community, and understand our progress better.
01. Centre for Appearance Research: take part in research about making family planning decisions Expand The Centre for Appearance Research at the University of the West of England is exploring family planning and decision making for people with a visible difference which can be inherited. Research Fellow, Dr Kerry Montgomery would like to explore what influences decisions about having children, the options available, and what support would be helpful when making decisions. The findings will inform the development of support resources for families. To take part, you need to: Be aged 18 or over Be personally affected by EB Have considered having children or have children Kerry is looking for two DEBRA members to review some materials (approximately an hour) and take part in a 1 hour online meeting. These members would be paid £25 per hour for their time. If you are interested in participating in this Patient Public Involvement (PPI) opportunity, please answer a few short questions in the link below: Register your interest in being a Research Advisor for the project: Exploring family planning decisions for people with an inheritable visible difference.
02. Cells in research Expand Cells are living things that can be independent like bacterial cells, yeast cells or an amoeba or they can cluster together and take on different jobs to make a multi-cellular creature like a human, chicken, mushroom or tree. Within a multi-cellular creature, different cells exist that look very different (if you’ve got a good microscope) and do very different things. They’re about 1/100 to 1/10 of a millimetre in size so you can’t see individual cells with the naked eye. Skin cells look different to blood cells, red blood cells look different to white blood cells and there are different types of white blood cells that do different jobs as part of our immune system. Cells that look different through a microscope or that do different things are given different names by researchers. For example: macrophages are cells involved in inflammation and wound healing – they start off as monocytes, happily whooshing around in our blood, but when skin is wounded, they stick to the damaged area and become macrophages that can help fix the damage. Fibrocytes are skin cells that are involved in scarring (fibrosis) and making collagen. Keratinocytes are skin cells that make lots of keratin, a skin protein that doesn’t work properly for many people with epidermolysis bullosa simplex (EBS). Researchers call skin cells ‘epithelial cells’. These are the cells that are involved in making our skin and the layers that cover our internal organs and the insides of our breathing pipe (windpipe or trachea) and food pipe (oesophagus). Some potential treatments for EB involve growing skin cells in a laboratory. Researchers sometimes put new treatments directly onto cells grown in a laboratory to see how (or if) they might work before using them on an actual living creature. This is easier, cheaper, safer and reduces the use of animals in research. However, the results might not be quite as useful for patients because cells in a dish are often a little bit different to the ones inside us so may behave differently. It’s also easier to apply a treatment directly to cells in a dish than to get a medicine to them when they are part of a living human body so researchers must consider how their medicine will get to the right cells as part of developing a treatment that works. Some potential EB treatments are based on stem cells. These are a specific type of cell that can transform itself into other types of cell. Treatments can use autologous stem cells which come from a person’s own body or allogeneic stem cells which come from somebody else. Stem cells are often taken from bone marrow but can come from other parts of the body. Image credit: Stem cell differentiation, by Haileyfournier. Licensed under the Creative Commons Attribution-Share Alike 4.0 International license.
02. I’ve registered but I haven’t received my t-shirt, what do I need to do? Expand Please fill in this form once you’ve registered so we can send you your t-shirt.
02. Rare Minds Matter: Mental Health Survey 2023 Expand Rareminds are a not-for-profit Community Interest Company providing affordable, timely access to highly specialised counselling and wellbeing resources for people living with rare conditions. They would like anyone impacted by rare diseases (people with a rare condition, carers, family members and patient/support group leaders) to take 5-10min to complete this survey. Take the survey
02. What type of EB is it for? Expand This clinical trial will see an existing licensed treatment for psoriasis (apremilast) clinically tested on children and adults with severe epidermolysis bullosa simplex (EBS).
02. What type of EB is it for? Expand Filsuvez® is licensed for use by anyone older than 6 months with Dystrophic EB (DEB) or Junctional EB (JEB).
02. What will I be asked to do? Expand To kick things off you can join one of the two meetings taking place to talk you through the process of reviewing the research grants. After those sessions you will receive links to the research summaries by email from the DEBRA team. You will be asked to read the summary, provide a score to indicate how strongly you feel that the research is worth funding, and leave any positive or negative comments for us to consider. If you'd like to be involved without attending a session, please let us know
02. Who is running this study? Expand This is a DEBRA study, but it is being carried out by Synergy Healthcare Research, a market research agency. Synergy Healthcare Research works alongside pharmaceutical companies and not-for-profit organisations to produce high quality healthcare research. DEBRA will see only anonymised results of the study, and the interviews will be conducted by trained interviewers from Synergy, not DEBRA staff. Synergy has partnered with Hedgcombe Research for the interview stage of the study, to process all your questions about taking part, and organise the timings of interviews.
03. Development of an app to detect RDEB SSC from photographs Expand Northwestern University (Chicago, USA) researchers are looking for people with RDEB and history of SCCs to contribute photographs of their skin lesions. The aim is to create a web application for patients with RDEB to upload images of their skin and get an output as to SSC present/no SCC. Find out more
03. Guide researchers to create a useful project on ‘person-centred wound care' Expand Adults (18+) living with any type of EB or adult family members of children living with EB, are invited to discuss their experiences of nurses treating a wound that has lasted more than four weeks in online workshops via Zoom. Personal experiences will help the researchers to develop a better project to understand the values and behaviours that are important when nurses are providing care. An online workshop will provide feedback and invite participants to shape the questions for a research project planned by King’s College London and John Hopkin’s University (USA). Register your interest
03. How does my team track its progress? Expand You will be able to chart every mile you walk or run on our interactive virtual route. You can enter your miles manually or connect your mobile or compatible wearable device. You can see more of your data through your challenge statistics page on the platform.
03. How much time will it take? Expand The number of applications varies each year, but we estimate that reviewing each one should take no longer than 15 minutes. You are free to review all the applications you are sent or pick and choose which ones you’d like to review before the review period ends. There is no pressure to complete even one if you decide that this involvement opportunity is not for you.
03. Proteins Expand We think of protein as being a food group – meat and pulses – but this stuff called ‘protein’ is made up of lots of very different individual ‘molecules’. A molecule is what you get when lots of atoms – of carbon, hydrogen, oxygen, nitrogen and other elements - are stuck together. You can make models of different molecules using blobs of playdoh and straws or computer animation programs. Protein molecules are far too small to see with a microscope that would show us cells easily. They’re what cells are made out of; they make up the stuff that cells are glued together with and they are how cells communicate with each other. ‘Enzymes’ are a type of proteins that help chemical reactions to happen and are important in our bodies for things like digesting food. The specific 3D shape of each protein molecule is very important for how they stick to each other and carry out their specific jobs inside our bodies. Our skin is made from lots of different cells and proteins all sticking to each other. Protein molecules are long chains of amino acids (smaller molecules). When we eat protein, our digestive system breaks that delicious steak up into individual amino acids and takes them into our blood. Our bodies can then put the amino acids back together again in a different order to make the proteins we need – turning cow protein into human protein! There are 20 common amino acids, each slightly different, a bit like having 20 different types of Lego blocks. When they are stuck together following specific instructions, we end up with a protein that can contain hundreds or thousands of amino acids (a big molecule). This might look like an impressive Lego sculpture… or a small part of one. Creating a protein is like following the Lego instructions. If one step is missing, or you accidentally turn over two pages at a time, the whole, beautiful protein at the end can be completely broken. Quite often, the final, working protein, is made up of many different smaller proteins, each one a separate chain of amino acids from a separate instruction booklet, all carefully linked together. When we talk about proteins like keratin and collagen, we are talking about huge protein structures that are put together from lots of different, smaller proteins, each one with its own instruction booklet (gene) and specific order of amino acids. These chains of amino acids twist around each other and stick together in specific ways to make lots of different versions with slightly different jobs within our bodies. Keratin and collagen are actually groups of proteins. There are lots of different types of keratin and lots of different types of collagen but they are both proteins that form long fibres by twisting chains of amino acids around each other. Image credits: Amino Acid Structure, by Techguy78. Licensed under the Creative Commons Attribution-Share Alike 4.0 International license.Lego blocks, by Ypiyush22. Licensed under the Creative Commons Attribution-Share Alike 4.0 International license.Collagentriplehelix-es, by Vossman, Modificado por Alejandro Porto. Licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license.
03. What does it do? Expand Encouraging results published after an initial small trial, showed that it appears to reduce blistering in patients who have the severe form of epidermolysis bullosa simplex.
03. What does it do? Expand Filsuvez® gel helps EB wounds to heal. Over 200 adults and children with Dystrophic, Junctional and Kindler EB were involved in a phase 3 clinical trial that produced the evidence that Filsuvez® gel helped wounds to close more quickly. 41% showed complete wound closure within 45 days compared to 29% using a placebo gel that did not contain the active ingredient. During the initial 90-day treatment period, 32% of participants given Filsuvez® required daily wound dressing changes compared to 50% of those using the placebo, and those treated with Filsuvez® reported reduced pain when dressings were changed. More recent trial data showed that the percentage of the body surface area that was wounded decreased on average by more than half for DEB patients after 15 months using Filsuvez®.
03. What will the research involve? Expand This study is now closed. Watch out for the results! This study involved two stages: Stage 1 will involve a 60-minute (or 2 x 30 minutes if preferred) webcam interview with a trained interviewer via Zoom, Teams or your preferred platform. We are looking to speak to around 20 people with lived experience of having EB, and carers of people with EB, to discuss their experiences of the condition. To thank you for your time and involvement we will send you a £60 voucher for either Amazon, Marks and Spencer, or John Lewis. Stage 1 has now ended, thank you to everyone who took part. Stage 2 is an online survey that we would like as many people as possible to participate in.