A Look Back and a Look Ahead for EB Families


The new year will be upon us in just days. As we get ready to venture into 2018 uncertain of what the year may hold, we do know this: there are some exciting things ahead so let’s toast to the best of this year and what is yet to come.


In 2017, we saw a rise in the number of clinical trials in the U.S. and around the world focused on epidermolysis bullosa. As of December 2017, 20 trials are currently recruiting or launching though not yet recruiting, a strong indication that the research community dedicated to EB and other rare diseases is growing and becoming more vested in developing better treatments and a cure.


Various organizations that support EB patients and their families have continued their efforts to garner more media attention about the disease as well as research and resource dollars. Stories covered across major media outlets over the past year such as the Washington Post, New York Times, Forbes and Rolling Stone are reaching a wider audience and shedding light on a little-known disease. For The EB Research Partnership (EBRP), 2017 has meant record-setting fundraising dedicated to EB research including $1.3 million at its annual fall gala Action for Jackson and $135,000 at its annual poker night All in for a Cure, both held in NYC.


Groups also are making new strategic alliances to share valuable knowledge and data and encourage collaboration among clinical communities. Debra of America recently announced its new partnership with Jefferson Dermatology at Thomas Jefferson University (Philadelphia, PA) to establish the first ever Adult-only EB and Skin Cancer Clinic.


Next year, EB families can look forward to. Debra of America hosts its debra Care Conference July 22-25, 2018 at the Grand Sheraton at Wild Horse Pass in Chandler, Arizona. Held every two years, the event brings together EB patients and their families from across the country to meet with medical professionals, researchers and other resources to support EB families. As organizations like debra, EBRP, Epidermolysis Bullosa Medical Research Foundation (EBMRF) and the public figures that support them, garner greater media interest and fundraiser support for their campaigns and events, new resources and knowledge can become more readily available to EB patients and the people who care for them. It is very exciting to see what may be in store for all of us living and working within the EB community.


For now, we wish you all a beautiful holiday season, and will look forward to connecting again in the new year. Be safe out there, everyone.

Update on EB Research Trials

A few times a year, we provide an updated list of the current clinical research trials recruiting or in progress that could impact the EB community based on those captured on the U.S. National Institutes of Health (NIH) website. At this time, there are 16 open EB clinical research trials listed as active, up four new trials since we last provided a research update in April. Two studies abroad in France and Switzerland are not yet recruiting, and the status of three other international studies is currently labeled unknown. Of those 11 EB research studies which are open and recruiting, eight of them are actively being run within the United States and three are being led in other internationally-based locations.


The following list of trial summaries highlights key information about the U.S. studies that are currently recruiting. For the latest detailed information about all EB studies open and recruiting here in the U.S. and abroad, you can visit the NIH’s Clinical Trials page at the following link: http://clinicaltrials.gov/ct2/results?term=epidermolysis+bullosa&recr=Open. Please keep in mind that since a federal government shutdown became effective October 1, information may not have been updated since that date due to a decrease in staff available to maintain the data. The NIH notes this on its own website in a disclaimer.


The following is not an endorsement but merely a brief summary of the EB clinical trials available at this time and is for informational purposes only. You should visit the relevant links provided for more information. You should also consult your health care professional and thoroughly understand the potential risks involved with a clinical trial before you participate in any clinical trial. We take no responsibility for any results or outcomes associated with the following clinical trials.


  • Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa. Dr. Alfred T. Lane of Stanford University’s School of Medicine heads up this study first launched in December 2010 and last verified in December 2012. The trial is being conducted in collaboration with the National Institute of Arthritis and Musculoskeletal and Skin Diseases. For this study, researchers create a graft of the participant’s skin that has been genetically engineered in a culture, in an attempt to correct its cellular protein deficiency which has led to RDEB. Investigators then transplant the “corrected” cells back onto the patient’s skin. For more information about this study, click here to link to ClinicalTrials.gov.


  • Stem Cell Transplant for Epidermolysis Bullosa. This study by the Masonic Cancer Center at the University of Minnesota was last verified in May 2013 and attempts to test a primary hypothesis that the infusion of bone marrow or umbilical cord blood from a healthy donor will correct a collagen, laminin, integrin or plakin deficiency certain and reduce the skin’s fragility caused by severe forms of EB. For treatment, EB patients are receiving a combination of a chemotherapy regimen, a bone marrow or umbilical cord blood stem cell transplant and a mesenchymal stem cell transplant. For more information about this study, click here to link to ClinicalTrials.gov.


  • Characteristics of Patients with Dystrophic Epidermolysis Bullosa. In addition to Dr. Lane’s gene transfer study, Stanford University is conducting a screening of subjects with DEB to evaluate the characteristics of these patients, who may develop severely painful blistering and open wounds. This trial was last verified in December 2012 and involves the study of cells to support the development of future therapy strategies. For more information about this study, click here to link to ClinicalTrials.gov.


  • A Study of the Efficacy and Safety of ABH001 in the Treatment of Patients with Epidermolysis Bullosa Who Have Wounds That Are Not Healing. Launched in December 2012 and last verified in September 2013, this trial by Shire Regenerative Medicine will attempt to evaluate the efficacy and safety of ABH001 for treating EB patients with wounds that are not healing. The hypothesis being tested is that ABH001 may initiate and continue the wound healing process for this population of EB patients. Sites in the U.S. currently recruiting for this study include Phoenix Children’s Hospital, Lucile Packard Children’s Hospital at Stanford University, Rady Children’ Hospital at UCSD in San Diego, Denver Children’s Hospital, Ann and Robert H. Lurie Children’s Hospital in Chicago and Virginia Clinical Research in Norfolk, Va., as well as eight locations across Canada and Europe. For more information about this study, click here to link to ClinicalTrials.gov.


  • Treatment of Chronic and Non-Chronic Wounds in Patients with Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard Care. This trial, which launched in October 2012 and was last verified in February 2013, is also being led by Dr. Lane at Stanford University. The purpose of the study is to test the effectiveness of a specific collagen wound dressing (Helicoll) against traditional wound dressing for treating chronic and no-chronic wounds of RDEB patients. Eligible trial participants must be seven years or older. For more information about this study, click here to link to ClinicalTrials.gov.


  • Characteristics of Adult Patients with Recessive Dystrophic Epidermolysis Bullosa. Stanford University launched another screening in May 2009 that continues and was last verified in December 2012. This study of RDEB patients screens diagnosed adults to assess if there are additional characteristics that support survival into adulthood. For more information about this study, click here to link to ClinicalTrials.gov.


  • Efficacy of Granulocyte Colony Stimulating Factor in Patients with Dystrophic Epidermolysis Bullosa. This feasibility study from Vanderbilt University in Nashville, TN was launched in February 2012 and verified in July 2013. The study attempts to measure the effectiveness of the Granulocyte Colony Stimulating Factor treatment in DEB patients over 7-day trial period. The team would then follow up with participating patients at two intervals: 7 days after and 30 days after discontinuation of the drug. For more information about this study, click here to link to ClinicalTrials.gov.


  • Grafting of Epidermolysis Bullosa Wounds Using Cultured Revertant Autologous Keratinocytes. This is another study being led by Dr. Lane at Stanford University. Launched in October 2011 and last verified in December 2012,this trial plans to use Revertant Mosaicism to test a hypothesis. Revertant Mosaicism means that a patient has two different genetically different cell populations due to spontaneous mutations. In this study, the patient will be treated using his or her own normal, non-fragile skin patches from cells the research team has cultured from unaffected areas of the EB patients’ skin using grafts to treat wounded areas on the same patient. For more information about this study, click here to link to ClinicalTrials.gov.