The Latest in EB Research

For those facing epidermolysis bullosa, staying informed about the latest clinical research related to the disease can be helpful. A couple times a year, we like to offer a snaphot of clinical trials currently recruiting or in progress that could impact the EB community based on those logged on the U.S. National Institutes of Health (NIH) website.

At present, there are 14 open, international, EB clinical research trials listed as active, with one of the studies not yet recruiting and four of the other international studies listed with unknown recruiting status. Of the remaining nine EB research studies which are open and recruiting, six of them are actively being run within the United States and three are being led in other internationally-based locations.

This summary spotlights key background information as it relates to the six U.S. studies. For the most up-to-date, detailed information about all EB studies open and recruiting here in the U.S. and abroad, please go to the NIH’s Clinical Trials page at this link: http://clinicaltrials.gov/ct2/results?term=epidermolysis+bullosa&recr=Open.

The following is not an endorsement but a brief summary of EB clinical trial background information available at this time and is strictly for informational purposes only. For more information, visit the links provided. 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. Led by Dr. Alfred T. Lane of Stanford University’s School of Medicine, this study launched in December 2010 and was last verified in March 2014. The study represents a collaboration between the university and the National Institute of Arthritis and Musculoskeletal and Skin Diseases. During the study, researchers create a graft of the participant’s skin that has been genetically engineered in a culture to attempt correcting the cellular protein deficiency that led to the 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. Last verified in December 2013, this study by the Masonic Cancer Center at the University of Minnesota 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 and reduce the skin’s fragility caused by severe forms of EB. During the trial, EB patients receive a combination of a chemotherapy treatment 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. Dr. Lane at Stanford University is also conducting a screening of subjects with DEB to evaluate the characteristics of these patients, who may develop severely painful blistering and open wounds. Last verified in March 2014, this trial 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.
  • Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Those with EB. Launching in March 2014 and last verified in April 2014, this study led by Scioderm, Inc. is the most recently launched, active EB trial. The purpose of this study is to assess the continued safety of topical use of SD-101 cream in subjects with epidermolysis bullosa. Patients age 6 months or older diagnosed with EB are still being recruited through the following locations:  Stanford University (Palo Alto, CA); Ann & Robert H. Lurie Children’s Hospital of Chicago (Chicago, IL); Washington University School of Medicine (St. Louis, MO); Hackensack University Medical Center (Hackensack, NJ); University of North Carolina School of Medicine (Chapel Hill, NC); Texas Dermatology and Laser Specialists (San Antonio, TX); and Seattle Children’s Hospital (Seattle, WA). For more information about this study, click here to link to ClinicalTrials.gov.
  • Characteristics of Adult Patients with Recessive Dystrophic Epidermolysis Bullosa. In May 2009, Stanford University launched another screening that was last verified in March 2014 and is still currently recruiting participants. This trial featuring RDEB patients screens diagnosed adults to study 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 launched in February 2012 and continues to recruit for participants, and it was most recently verified in July 2013. The study attempts to measure the effectiveness of the Granulocyte Colony Stimulating Factor treatment in DEB patients over a 7-day trial period. Following this timeframe, the team follows 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.

Lucky to Have These EB Voices

When we first started this blog back in late 2009, we had a small community. So many people still had not heard of epidermolysis bullosa at that time. It’s been a mission for many of us to change that, and in four-plus years, it has. There are definitely more families, more communities and more researchers involved in spreading the word about EB. Here are just three of some EB voices who have been very influential in educating others about EB.

  • Andrew and Shawn Ripps Tavani. The Tavani family has been a consistent supporter of EB families through its various fundraisers for DebRA. Since daughter Ellie was born with EB in 2006, the Tavanis have been reaching out to their community and beyond to raise funds for an organization that helped them through its various support programs and continues to do so. The Tavanis coordinate fundraisers through Butterfly Wishes for Ellie including an EB Awareness Walk and their main annual silent auction fundraiser to be held this year on Thursday, May 22 in Atlanta. Click here for more details.
  • Geri Kelly, RN. Just as the Tavanis are educating communities about EB through their events, DebRA’s on-staff Nurse Educator Geri Kelly, RN, is educating anyone who may come into contact with an EB patient, to ensure they have the necessary information about the disease and to serve as a valuable resource for questions about care and needed supplies, particularly with those unfamiliar with the disease or what care may be required. As Nurse Educator, Kelly plays a vital role as a point of contact for parents of newly diagnosed children with EB, patients still trying to fully understand their condition, and healthcare professionals and caregivers managing care for EB patients. Click here to read more about her role at DebRA.
  • Alfred T. Lane MD. As a professor and Chair of Dermatology at Lucile Packard Children’s Hospital at Stanford University, Dr. Alfred Lane has been one of a small group of research leaders in the study of epidermolysis bullosa. He has become a key voice in the discussion of EB, continuing to educate others in healthcare, the scientific community and the general public about the disease and its impact. Specializing in pediatric dermatology, he continues to lead clinical trials through the University and has participated in videotaped interviews on the subject of EB that have since been made available on sites like YouTube for online learning and distribution of information. Click here to view one such interview.

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.

EB Clinical Trial Updates

Throughout the year, we like to keep the EB community informed about current clinical research trials in place. According to the U.S. National Institutes of Health (NIH) website, there are presently 12 open EB clinical research trials listed as actively recruiting participants.

One study is not yet recruiting and the status of two studies is currently labeled unknown. Of those open, recruiting EB research studies, eight studies are taking place in the U.S. and four are being led outside of the U.S.

The following briefs highlight general aspects of the U.S. studies currently recruiting. For the latest detailed information about all EB studies open and recruiting here in the U.S. and abroad, please visit the NIH’s Clinical Trials page at the following link: http://clinicaltrials.gov/ct2/results?term=epidermolysis+bullosa&recr=Open.

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 link below 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 leads this study first launched in December 2010. The trial is being conducted in collaboration with the National Institute of Arthritis and Musculoskeletal and Skin Diseases. This study involves researchers creating a graft of the participant’s skin that has been genetically engineered in a culture, in an attempt to correct its cellular protein deficiency causing 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, is attempting to test its primary hypothesis that the infusion of bone marrow or umbilical cord blood from a healthy donor will correct certain deficiencies and reduce the skin fragility characteristic of several severe forms of EB. EB patients are being treated with 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 its gene transfer study for RDEB patients, Stanford University is conducting a screening of subjects with DEB to evaluate the characteristics of these patients, who often develop severely painful blistering and open wounds, and examine their cells as a means to support the development of future therapies. 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, 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 these particular EB patients. Currently, a handful of sites in the U.S. are recruiting for this study including UCSD Children’s Hospital in San Diego, Northwestern University in Chicago and Virginia Clinical Research in Norfolk, Va. 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 is being led by Dr. Lane at Stanford University and launched last October. Its purpose 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. For more information about this study, click here to link to ClinicalTrials.gov.
     
  • Characteristics of Adult Patients with Recessive Dystrophic Epidermolysis Bullosa. Stanford University is also conducting a screening of RDEB patients similar to its Dystrophic EB trial, in particular those adults who survive with the diagnosis into adulthood, to evaluate their characteristics. 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 launched in February 2012 and attempts to measure the effectiveness of Granulocyte Colony Stimulating Factor treatment for DEB patients in a seven day course of treatment. Follow-up with the patients will take place after seven days and 30 days following 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 that launched in fall 2011. Revertant Mosaicism means that a patient has two different genetically different cell populations due to spontaneous mutations, and for this study, the research team is attempting to use such circumstances to treat a patient with his or her own normal, non-fragile skin patches. That is, the team will try to culture cells from these areas the EB patients’ skin to create grafts for the wounded areas of the same patient. For more information about this study, click here to link to ClinicalTrials.gov.

Q&A with an EB Advocate: Jamie Silver of Jackson Gabriel Silver Foundation, Part I

Jamie and Alexander Silver founded the Jackson Gabriel Silver Foundation in 2010, following the birth of their son Jackson and his diagnosis with recessive dystrophic epidermolysis bullosa. Recently, we spoke with co-founder and mom Jamie about what the foundation is doing to make a difference in the EB community. We will be featuring this conversation over the next two weeks.

 

This week, Jamie talks about the family’s introduction to EB and how she and her husband set out on a mission to create an organization focused on one key objective: supporting research efforts to develop a cure and improved treatments.

 

 

 

 

 

 

 

 

 

 

 

 

 

EB Resource (EBR): Let’s talk about how you and your husband first became aware of EB. When was your son Jackson born and how long afterward was he diagnosed with epidermolysis bullosa?

Jamie Silver (Jamie): Our son was born in fall of 2007. When he was first born, the doctors didn’t notice anything wrong other than his nails were discolored and that he had a blister inside his mouth, which were not thought to be major problems. When Jackson had a heel print the next day, the nurses covered the area with a Band-Aid, and when it was subsequently taken off, it removed the skin from his entire heel. They immediately rushed him to the NICU for special care. In the NICU, he received an IV that was taped to his finger, and when that was removed, it took all of the skin off of his finger. I think many parents of newborns with EB hear a similar story — the hospital staff is well meaning but has never seen EB before and doesn’t know how to handle a child born with it. In Jackson’s case, he was fortunately diagnosed soon after his birth by a pediatrician who had trained at Children’s Hospital of Philadelphia where she had seen EB prior.

EBR: What’s going through your mind as a parent when you receive news of this diagnosis? Were you familiar with it at all?
Jamie: No, we had never ever heard of EB. Jackson was our first child. We were completely shell-shocked. Thinking back to that time is a blur. I have memories and glimpses of myself sitting in the NICU and remember being so frightened about what they were telling me and all of the complications that Jackson might have as a result of EB. Within a week of his birth, we transferred him to a hospital where they had treated other newborns with EB and had a specialist on staff. I remember the first time we ever watched them do a bandage change, and they took out all of these needles and supplies and thought, "I don’t even know how to take care of a baby yet. How am I going to be able to do this?" He spent several weeks in the NICU and we learned how to care for him before bringing him home.

 

EBR: Tell me what that experience was like for you and your husband.
Jamie: EB’s physical manifestation arose quickly. Jackson lost all his nails and formed blisters in his mouth and all over his body. My husband and I had to learn how to treat our son and improvise in new situations as they arose. I was briefly in touch with some other families, but in the beginning, I found listening to the stories overwhelming. It took me a little time before I could fully immerse myself in the community because I needed time to process everything myself. My husband started doing a lot of reading and learning about what was happening in the field of research. It took time to adjust to the reality of our lives versus our expectations.  We are stronger as a family as a result, but we worked hard to get there.

 

EBR: Where along your journey did you decide that you wanted to do more, that you wanted to launch an organization focused on the EB community?
Jamie: What really drove us to start our foundation was that we wanted to focus our energy purely on funding EB research. Alex quickly realized that with such a rare disease and diverse patient population spread all around the globe, pharmaceutical companies were going to need a push to be interested in EB, because it is incorrectly perceived as too small of a market. It was going to rely on families working with policy makers and the private sector to advance EB treatments in a timeframe that helps today’s kids. That’s where we got the idea to create something focused solely on research and with a lean infrastructure, we could pass almost all of the funds onto researchers.

 

EBR: And you launched the Jackson Gabriel Silver Foundation in 2010, right?
Jamie: Yes.  In 2009, we held a fundraiser for a family fund set up within DebRA of America. We knew we wanted to educate the people in our community and raise money for research (specifically, David Woodley’s protein-replacement therapy at USC). We thought that if 100 people attended that it would be amazing. It turned out that 200 came and we had to stop selling tickets!

We raised almost $70,000 at our first event and quickly realized that we were onto something. If we were going to raise a lot of money, then we wanted it to be specifically for research, as we think it is the best gift that we can give any child living with EB, and we also knew that we could keep expenses low so most of the funds would go to the researchers. So that’s where the idea of starting a 501c3 began and we launched in 2010.

EBR: You mentioned that your group is open to supporting various kinds of therapies and treatments across different institutions. Are there particular facilities or research organizations with whom you’ve partnered most frequently? Tell us about the different research efforts your organization supports.
Jamie: The first big project that we raised money for was Dr. (David) Woodley and Dr. (Mei) Chen at the University of Southern California who were working on a protein-replacement therapy for dystrophic EB. We felt it held a lot of promise based on years of published research and was showing good results in models. Our research showed that protein-replacement therapies had successfully made it through the FDA and the protein in question – Collagen VII – was a “cousin” to Collagen I, which was approved for cosmetic treatments. In speaking with experts, it also seemed that protein-replacement therapy was the most likely candidate to get to those who needed it first given the regulators’ understanding of it. Finally, our Foundation is backing both treatments that increase quality of life significantly as well as cures. While protein-replacement therapy is not a cure, it could make the difference in living a long and full life vs. a shortened and painful one.

We have also supported protein-replacement therapy at Stanford University and stem cell gene therapy at the University of Minnesota (not the current bone marrow transplant program). We have set up a matching campaign with EBMRF (Epidermolysis Bullosa Medical Research Foundation) for the University of Minnesota and Dr. (Jakub) Tolar who is coming up with a gene therapy which involves taking cells from EB skin and re-engineering them. Because it’s the patient’s own cells, there would be less risk of rejection. So they wouldn’t have to go through the same chemo and all of the things that have made the current stem cell transplants so tricky. DebRA is also supporting Dr. Tolar’s work.  At Stanford, they’re also doing some protein therapy through a different method of delivery, so we are interested in seeing which one works most effectively, which could be something different for each person.

Also, along with the EBMRF, we have established something called the EBCRC, the Epidermolysis Bullosa Clinical Research Consortium. It’s a research consortium so there are a variety of different physicians at leading research hospitals that meet regularly to collaborate on best practices and translational research. We established the Consortium to advance their knowledge of EB and improve outcomes for EB patients.

EBR: That sounds very similar to what they’ve tried to do with Stand Up to Cancer and that particular movement to unite cancer research efforts.
Jamie: Yes, Dr. (Alfred) Lane at Stanford and other doctors mentioned that there was a research consortium for rheumatoid arthritis and they found so much great stuff has come out of these doctors collaborating, so that was the premise behind it — that it has worked really well for other diseases in advancing care and research. It should also help support these research trials that are going to be starting in 2013.

EBR: Is the Consortium and its discussions and findings something that is currently a resource available to the public through a website or other communications or is the collaborating being done privately between the institutions solely?
Jamie: They are meeting and working together privately for now with the goal of expediting clinical research on EB. One thing that has really struck us in talking with the researchers and having a front-row seat of what is happening in EB research is the doctors’ enthusiasm. I think the doctors feel way more encouraged than they ever have, that things are starting to move ahead, there’s starting to be more funding available and people are working together. We just returned from the Patient Care Conference and there was a real sense of optimism from the research front.

Next week, we’ll continue our conversation with Jamie as she discusses which fundraising efforts have been most successful for the foundation and what her son thinks of mom and dad’s work in the EB community. For more information about the Jackson Gabriel Silver Foundation and the work they are doing, visit the organization’s website at www.jgsf.org.
 

EB Clinical Trial Updates

According to the U.S. National Institutes of Health (NIH) website, there are currently 11 open EB clinical research trials still recruiting participants. Among those active EB research studies, six studies are taking place in the U.S. and five are being led outside of the U.S. The following briefs highlight aspects of the U.S. studies currently recruiting. For the latest detailed information about all 11 EB studies currently open and recruiting here in the U.S. as well as abroad, we encourage you to visit the NIH’s Clinical Trials page at the following link: http://clinicaltrials.gov/ct2/results?term=epidermolysis+bullosa&recr=Open.

  • Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa. Dr. Alfred T. Lane of Stanford University’s School of Medicine leads this study first launched in December 2010. The trial is being conducted in collaboration with the National Institute of Arthritis and Musculoskeletal and Skin Diseases. This study involves researchers creating a graft of the participant’s skin that has been genetically engineered in a culture, in an attempt to correct its cellular protein deficiency causing RDEB. Investigators then transplant the “corrected” cells back onto the patient’s skin. For complete 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, is attempting to test its primary hypothesis that the infusion of bone marrow or umbilical cord blood from a healthy donor will correct certain deficiencies and reduce the skin fragility characteristic of several severe forms of EB. EB patients are being treated with a combination of a chemotherapy regimen, a bone marrow or umbilical cord blood stem cell transplant and a mesenchymal stem cell transplant. (This last transplant is to test a secondary hypothesis, that mesenchymal stem cells from a healthy donor will enhance the safety and effectiveness of the allogeneic hematopoietic stem cell transplant and serve as a source of renewable cells for treating focal areas of residual blistering.) For complete information about this study, click here to link to ClinicalTrials.gov.
     
  • Characteristics of Patients with Dystrophic Epidermolysis Bullosa. In addition to its gene transfer study for RDEB patients, Stanford University is conducting a screening of subjects with DEB to evaluate the characteristics of these patients, who often develop severely painful blistering and open wounds, and examine their cells as a means to support the development of future therapies. For complete information about this study, click here to link to ClinicalTrials.gov.
     
  • Characteristics of Adult Patients with Recessive Dystrophic Epidermolysis Bullosa. Stanford University is also conducting a similar screening of RDEB patients, in particular those adults who survive with the diagnosis into adulthood, to evaluate their characteristics. For complete 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, just launched in late February 2012 and will attempt to measure the effectiveness of Granulocyte Colony Stimulating Factor treatment for DEB patients in a seven-day course of treatment. Follow-up with the patients will take place after seven days and 30 days following discontinuation of the drug. For complete 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 that launched last fall. Revertant Mosaicism means that a patient has two different genetically different cell populations due to spontaneous mutations, and for this study, the research team is attempting to use such circumstances to treat a patient with his or her own normal, non-fragile skin patches. That is, the team will try to culture cells from these areas the EB patients’ skin to create grafts for the wounded areas of the same patient. For complete information about this study, click here to link to ClinicalTrials.gov.

Living with EB

Families living with epidermolysis bullosa may feel sometimes like they are always explaining – explaining why a loved one must eat or not eat certain things; explaining why their skin looks as it does; or explaining why particular toys or seating works better than others in a classroom or play setting to protect their child from injury. It can be tiring and emotionally draining, not just taking all of the precautions themselves, but the constant state of explaining. But families do it because these precautions can truly be life-saving.

We are thankful that there are some resources that have become available over recent years to help families do this one especially tough job, educating others about their family member’s EB. We wanted to mention these again for anyone who may not be familiar with their availability and as a reminder to families who may not have referenced them lately but who did find some usefulness in the past. If you have any other helpful resources or links to suggest to our community members that have been particularly helpful to you in explaining EB to neighbors, school staff and students or even other family members, please share them here in the comments section or on our Facebook page.

  • DebRA’s EB Classroom Video
    The DVD “What Is Epidermolysis Bullosa?" can be especially helpful in breaking down what living with EB is like for families and how students, teachers and other school personnel can support a family’s efforts to keep the student with EB as healthy and safe as possible from the moment he or she arrives in the classroom every day. To order this free DVD from DebRA of America, click here.
     
  • National Institutes of Health (NIH) Q&A about Epidermolysis Bullosa
    A helpful list of some of the most commonly asked questions about EB and their answers are available from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the NIH site. Click here to check it out and consider adding a bookmark so that the next time a friend or acquaintance inquires, you have a handy link to send.
     
  • Dr. Alfred Lane’s Discussion of EB Research and Treatment
    This is a simple 4-year-old video uploaded to YouTube that features the dermatology department chair and EB researcher from Lucile Packard Children’s Hospital at Stanford University, but it does such a good job of breaking down a complex disease and what scientists are hoping to uncover in their clinical research. Click here to see it for yourself and consider forwarding to others who could use the information.
     
  • Garrett: The Boy Beneath the Bandages
    It is no surprise to anyone watching it that this short film was the winner of the 2010 Rare Disease Day Video Contest. Photographer Andre Hermann mixes images with poignant music, audio and film footage of a day in the life of young Garrett and his family as they cope with the pain and challenges of living with EB. Click here to view part one. (The remainder of it, part two, can be viewed by clicking here.) If ever there were a way to “show” someone else life with EB, this may be the fastest, most compelling way to do so. What are your own thoughts on the video?
     
  • EB Public Service Announcement
    Previously, we posted at our blog this public service announcement video, which has also aired in various parts of the country, in an effort to educate people about EB and what it means for the individuals and families it impacts.
     
  • EB Resource
    We hope that you’ll consider our blog and Facebook community helpful tools that you can also introduce to family and friends as a way of explaining more about EB and what kinds of issues our community members face on a daily basis. In fact, one of our most popular blogs was a special one we did last summer, “100 Links for EB Families,” which featured 100 different EB-related links worth sharing. As you might expect, we learned afterward that we had not even scratched the surface and have since found several more helpful resources, but this blog could be a good starting point in trying to familiarize a distant family member or a friend about epidermolysis bullosa. So consider emailing the the link!

Latest EB Clinical Trials

The U.S. National Institutes of Health (NIH) currently reflects eleven EB clinical trials that are listed as “recruiting.” These include seven active EB research studies in the U.S. and four clinical trials abroad. We have compiled brief summaries highlighting specific aspects of the U.S. studies below. For complete information about all eleven of the EB studies recruiting internationally, visit the NIH’s Clinical Trials page by clicking here.

  • Allogeneic Hematopoietic Stem Cell Transplant for Epidermolysis Bullosa. Led by the team at the Masonic Cancer Center at the University of Minnesota, this trial is testing the safety and effectiveness of stem cell infusion for treatments of RDEB. Results based on animal models have indicated that stem cells may be able to home in on the skin and repair biochemical and structural abnormalities associated with RDEB and its collagen 7 deficiency. For complete information about this study, click here to link to ClinicalTrials.gov.
  • Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa. Dr. Alfred T. Lane of Stanford University’s School of Medicine is the primary investigator for this study, which first launched in December 2010. The trial, being conducted in collaboration with the National Institute of Arthritis and Musculoskeletal and Skin Diseases, involves creating a graft of the participant’s skin to attempt to correct the cellular protein deficiency that causes RDEB in a culture. Once this is completed, doctors then transplant the “corrected” cells back onto the patient’s skin. For complete information about this study, click here to link to ClinicalTrials.gov.
  • Stem Cell Transplant for Epidermolysis Bullosa. This study, entering Phase 2 of research by the Masonic Cancer Center at the University of Minnesota, is attempting to test its main hypothesis that the infusion of bone marrow or umbilical cord blood from a healthy donor can correct the cellular protein deficiency of several severe forms of EB and that this infusion may reduce skin fragility in participants. The study is also testing a secondary hypothesis that mesenchymal stem cells from a healthy donor will enhance the safety and effectiveness of the allogeneic hematopoietic stem cell transplant to serve as a renewable cell source to treat specific areas of blistering. For complete information about this study, click here to link to ClinicalTrials.gov.
  • Characteristics of Patients with Dystrophic Epidermolysis Bullosa. Stanford University is also conducting a screening of subjects with DEB to evaluate the characteristics of the patients, who usually develop severely painful blistering and open wounds, as well as their cells as a means to support the development of future therapies. For complete information about this study, click here to link to ClinicalTrials.gov.
  • Characteristics of Adult Patients with Recessive Dystrophic Epidermolysis Bullosa. Similarly, Stanford University is conducting a screening to evaluate characteristics of patients diagnosed with RDEB who survive to adulthood. For complete information about this study, click here to link to ClinicalTrials.gov.
  • Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa. This Columbia University-sponsored study continues to seek qualified patients at three locations, including The Children’s Hospital in Aurora, CO, Children’s Memorial Hospital in Chicago, IL, and Morgan Stanley Children’s Hospital of NYP in New York City. The study is trying to determine the event-free survival and overall survival for RDEB patients after undergoing Reduced Intensity Conditioning by a combination of busulfan/flurdarabine/alemtuzumad (BFA) and Allogeneic Stem Cell Transplantation (ALLOSCT). For complete information about this study, click here to link to ClinicalTrials.gov.
  • Grafting of Epidermolysis Bullosa Wounds Using Cultured Revertant Autologous Keratinocytes. One of the most recently launched clinical trials that began in October of last year, this study led by Dr. Lane and the Stanford University team is listed as open to EB patients 18 and older (simplex, junctional or dystrophic). The trial will attempt to culture cells from EB patients’ non-fragile skin patches and graft them on to wounded areas for the same patient. For complete information about this study, click here to link to ClinicalTrials.gov.

The Latest on EB Clinical Research

According to the U.S. National Institutes of Health (NIH), there are currently ten active EB research studies in the U.S. and abroad still in the recruiting stage. Each study focuses on a specific goal in the treatment of epidermolysis bullosa, such as testing the effectiveness of a new or modified medication or implementing a procedure such as stem-cell transplantation. The methods and organizations behind the studies may vary, but ultimately we hope that each of these studies will offer EB patients and their families some answers in the future.

If you are planning to participate in a clinical study, be sure to get all of the facts regarding eligibility and the trial’s ongoing requirements beforehand. And if you’ve participated in a study or are currently taking part and would like to share your own feedback about the experience, we’d love to hear from you. Just email us at leslie.rader@hollisterwoundcare.com.

Here is some information about some of the trials currently recruiting in the U.S. A few of the universities referenced below who are currently involved in these clinical studies, such as Stanford and the University of Minnesota, have additional EB-focused studies going on simultaneously. Click here for the complete list of all EB studies both in the U.S. and internationally that are currently recruiting participants.

  • Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa. Dr. Alfred T. Lane of Stanford University’s School of Medicine heads up the study, one of the most recently active trials, in collaboration with the National Institute of Arthritis and Musculoskeletal and Skin Diseases. In this Phase 1 study, launched last December, doctors will create a graft of each participating RDEB patient’s skin and attempt to correct the cellular protein deficiency which causes RDEB in a culture, then transplant the corrected cells back onto the patient’s skin. Click here to learn more about this study at ClinicalTrials.gov.
  • Allogeneic Hematopoietic Stem Cell Transplant for Epidermolysis Bullosa. The team at the Masonic Cancer Center at the University of Minnesota is testing the safety and effectiveness of stem cell infusion for treatments of RDEB, based on animal models that have shown that stem cells can home in on the skin and repair biochemical and structural abnormalities associated with RDEB and its collagen 7 deficiency. Click here for more details about this study from ClinicalTrials.gov.
  • Effect of Thymosin Beta 4 on Wound Healing in Patients with Epidermolysis Bullosa. RegeneRx Biopharmaceuticals, Inc. is continuing to recruit Junctional EB and Dystrophic EB patients across ten locations nationwide for this study slated to continue through end of this year. The trial is designed to test the safety and tolerability of the Thymosin Beta 4 treatment, administered topically, as well as its lesion healing effectiveness. Click here to learn more about this study from ClinicalTrials.gov.
  • Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa. The team behind this Columbia University-sponsored study is seeking qualified patients to participate in trials at three locations. The study is trying to assess the event-free survival and overall survival for RDEB patients following Reduced Intensity Condition consisting of busulfan/flurdarabine/alemtuzumad (BFA) and Allogeneic Stem Cell Transplantation (ALLOSCT). To learn more about this study and its eligibility requirement, click here.

DebRA U.K., together with Intercytex and King’s College London, also announced the start of a Phase II trial with the Intercytex therapy ICX-RHY to treat skin erosions on patients diagnosed with severe RDEB. ICX-RHY is a suspension of human dermal fibroblasts (HDFs, which are naturally derived skin cells) in cell storage medium, for injection into the skin. The newly introduced HDFs are thought to repair the extracellular matrix to improve skin structure and function. Click here to read more about this recent news. As we learn more about the status of this clinical study and patient recruitment, we’ll be sure to include in future updates.

Sources:

Epidermolysis Bullosa, Open Studies (U.S. National Institutes of Health)

Research Funding Announcement from DebRA U.K.

Related Posts:

Looking Ahead to 2011 EB Events

Free EB Information Resources

A Q&A with DebRA’s Nurse Educator

Fast Facts about EB