Latest EB Research Updates

From time to time, we share information about certain clinical trials that are currently in progress and in some cases, still recruiting participants. We highlight trials that could possibly benefit the EB community through its research findings and use of it in creating more powerful treatment for the skin disease. Using the U.S. National Institutes of Health (NIH) website, we have compiled a summary of these research trials that have been logged by the NIH.

 

 

As of June 2017, there are 22 open, international, EB clinical research trials listed as active, with one of the studies not yet recruiting. Of the remaining 21 EB research studies which are open and recruiting, 13 of them are being run within the United States and eight are active in other internationally-based locations.

 

The following summary includes general background information related to the 13 open and recruiting U.S. studies. For complete, up-to-date listings for all EB studies open and recruiting here in the U.S. as well as internationally, please visit the NIH’s Clinical Trials page here: http://clinicaltrials.gov/ct2/results?term=epidermolysis+bullosa&recr=Open.

 

The following is not an endorsement but a 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.

 

 

· Study of Efficacy and Safety of SD-101 Cream in Patients with Epidermolysis Bullosa. Sponsored by Shasa Hu, M.D., at the University of Miami, the aim of this study is to investigate the effects of a topical cream on patients 12 years of age and older that have been diagnosed with epidermolysis bullosa. Launched in July 2016 and last verified in May 2017, this study is currently recruiting participants at the University of Miami Department of Dermatology in Miami, Florida. For more information about this study, click here to link to ClinicalTrials.gov.
 

·Stem Cell Transplant for Epidermolysis Bullosa. Launched in January 2010 and last verified in February 2017, this study by the Masonic Cancer Center at the University of Minnesota attempts to test two hypotheses. The underlying hypothesis is that the infusion of bone marrow or umbilical cord blood from a healthy unaffected donor will correct the collagen, laminin, integrin, or plakin deficiency and reduce the skin fragility characteristic of severe forms of EB. A secondary hypothesis is that mesenchymal stem cells from a healthy donor will enhance the safety and efficacy of the allogeneic hematopoietic stem cell transplant as well as serve as a source of renewable cells for the treatment of focal areas of residual blistering For more information about this study, click here to link to ClinicalTrials.gov.
 

· Characteristics of Patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB). Jean Yuh Tang at Stanford University is screening subjects with RDEB to evaluate characteristics of the subjects and their cells to develop new strategies of therapy and determine whether subjects could be candidates for treatment studies. This observational study at Stanford University in Stanford, California was launched in November 2009 and last verified in March 2016. For more information about this study, click here to link to ClinicalTrials.gov.
 

· Safety and Efficacy of Diacerein 1% Ointment Topical Formulation Compared to Placebo for Subjects with Epidermolysis Bullosa Simplex (EBS). This study with an anticipated launch date of May 2017 was last verified in June 2017 and is being led by sponsor Castle Creek Pharmaceuticals, LLC. The purpose of this interventional study, being held at Texas Dermatology and Laser Specialists in San Antonio, Texas, is to compare the efficacy of Diacerein 1% Ointment to Control Ointment when applied once daily for 8 weeks in subjects with EBS. For more information about this study, click here to link to ClinicalTrials.gov.
 

· Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Patients with Nonsense Mutations. Sponsored by the University of Southern California, the target of this study is to evaluate the safety and efficacy of intravenous gentamicin in RDEB patients. In theory, this intravenous administration has the possibility of treating simultaneously all skin wounds of patients. Investigators also propose optimizing the concentration and manner of delivery of topical gentamicin. Launched in January 2017 and last verified then, this study is currently recruiting participants at the University of Southern California in Los Angeles, California. For more information about this study, click here to link to ClinicalTrials.gov.
 

·Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa. This study launched in December 2010, led by principal investigator and associate professor at Stanford University Jean Yuh Tang, and was last verified in February 2017. The interventional study is a collaboration between the university and the National Institute of Arthritis and Musculoskeletal and Skin Diseases as well as Abeona Therapeutics. This trial, which is being conducted at Stanford University School of Medicine in Stanford, California, will create a skin graft, which the investigators call "LEAES," using the patient's own skin cells that have been genetically engineered in the lab to express a missing protein called type VII collagen. The corrected cells will be transplanted back to the patient. For more information about this study, click here to link to ClinicalTrials.gov.
 

· MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs. Launched in March 2016 and last verified in February 2017, this study by the Masonic Cancer Center at the University of Minnesota in Minneapolis, Minnesota is a single-institution, phase II study established to determine the event-free survival at 1-year following an allogeneic transplant and serial mesenchymal stem cell (MSC) infusions from a related donor or matched unrelated donor for the biochemical correction of severe EB. For more information about this study, click here to link to ClinicalTrials.gov.
 

·A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB). This study, launched in June 2016 and last verified in April 2017, is led by Fibrocell Technologies and administered at Stanford University in Stanford, California. The purpose of the study is to evaluate the safety of FCX-007, evaluate the C7 expression and presence of anchoring fibrils resulting from FCX-007, and to analyze wound healing as a result of FCX-007 administration in subjects with RDEB. For more information about this study, click here to link to ClinicalTrials.gov.
 

·Survey to Identify Burdens and Unmet Needs of Patients with Epidermolysis Bullosa. Launched in April 2017 and last verified in May 2017, this observational study sponsored by Amicus Therapeutics in Cranbury, New Jersey, intends to collect information on key aspects of life with epidermolysis bullosa (EB) including diagnostic journey, treatment, management, daily living challenges, and overall psycho-social, socio-economic, academic and family impact. For more information about this study, click here to link to ClinicalTrials.gov.
 

·Study of Cellutome System for Treatment of Individual Lesions in EB Pts. Led by principal investigator Jakub Tolar, MD, PhD of Masonic Cancer Center at the University of Minnesota in Minneapolis, Minnesota, the target of this study, launched August 2016 and last verified in February 2017, proposes local wound therapy using epidermal skin grafting from the same donor that provided the hematopoietic graft, or from the same EB individual with a mosaic (naturally gene corrected) skin. In both cases permissive immune system and skin chimerism is expected to enable long-term epidermal engraftment and wound healing. For more information about this study, click here to link to ClinicalTrials.gov.
 

· Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients. Sponsored by Jean Yuh Tang of Stanford University in collaboration with the Epidermolysis Bullosa Research Partnership and Menlo Therapeutics, Inc., this interventional study launched in July 2016 and was last verified in August 2016. The study held at Stanford University in Stanford, California aims to target the physiological mechanisms of pruritus (or itch), the most common complaint reported by patients with EB of all subtypes and determine whether daily oral administration of VPD-737 (5 mg) is effective and safe in adolescents and adults with EB. For more information about this study, click here to link to ClinicalTrials.gov.
 

· Using Topical Sirolimus 2% for Patients with Epidermolysis Bullous Simplex (EBS) Study. Sponsored by Stanford University and led by Joyce Teng, MD PhD, this interventional study was launched in May 2016 and last verified in November 2016. The pilot study targets the dominant mutant keratin proteins in the skin to ameliorate the severity of EB simplex. The purpose is to improve the function of EB simplex feet with an application of topical sirolimus, 2%. For more information about this study, click here to link to ClinicalTrials.gov.
 

· Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin. Launched in September 2015 and last verified in October 2015, this study led by Johns Hopkins University in Baltimore, Maryland features adult participants who will apply a broccoli sprout extract-jojoba oil compound to one arm every night under occlusion for a week with Jojoba oil alone applied to the other arm. At the end of that week, a 6mm punch biopsy will be taken from both arms and analyzed via polymerase chain reaction (PCR) and immunohistochemistry for differences in skin proteins. For more information about this study, click here to link to ClinicalTrials.gov.

EB Research Update, Summer 2016

A variety of clinical trials are currently recruiting participants or already in progress that could ultimately benefit the EB community with its findings. Using the U.S. National Institutes of Health (NIH) website, we are able to offer a useful summary of these research trials that have been logged by the NIH.

 

Currently, there are 20 open, international, EB clinical research trials listed as active, with four of the studies not yet recruiting and four of the other international studies listed with unknown recruiting status. Of the remaining 12 EB research studies which are open and recruiting, seven of them are being run within the United States and five are active in other internationally-based locations.

 

The following summary spotlights key background information related to the seven open and recruiting U.S. studies. For the complete, up-to-date details about each of the EB studies open and recruiting here in the U.S. as well as internationally, please visit the NIH’s Clinical Trials page here: 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.

 

 

  • Study of Efficacy and Safety of SD-101 Cream in Patients with Epidermolysis Bullosa. Sponsored by Scioderm, Inc., the target of this study is to evaluate the efficacy and safety of SD-101-6.0 cream versus a placebo in the treatment of EB. Launched in November 2009 and last verified in June 2016, this study is currently recruiting participants in various locations across the U.S. including the University of Missouri (St. Louis, MO), Stanford University Dept. of Dermatology (Redwood City, CA), University of Colorado School of Medicine (Aurora, CO), Ann & Robert H. Lurie Children's Hospital of Chicago (Chicago, IL), Washington University School of Medicine (St. Louis, MO), University of North Carolina School of Medicine (Chapel Hill, NC), Cincinnati Children's Hospital Medical Center (Cincinnati, OH), Seattle Children's (Seattle, WA), 'Specially for Children (Austin, TX) and Texas Dermatology and Laser Specialists (San Antonio, TX), as well as in France, Italy, Germany, the Netherlands, Austria, Poland and the U.K. For more information about this study, click here to link to ClinicalTrials.gov.
     
  • Characteristics of Patients with Dystrophic Epidermolysis Bullosa. Jean Yuh Tang at Stanford University is also conducting a strictly observational study by screening subjects with DEB to evaluate the characteristics of these patients, who may develop severely painful blistering and open wounds. First launched in November 2009 and last verified in March 2016, 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.
     
  • Stem Cell Transplant for Epidermolysis Bullosa. Launched in January 2010 and last verified in May 2016, 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. A secondary hypothesis also examines the impact of mesenchymal stem cells from a healthy donor on the safety and efficacy of an allogeneic hematopoietic stem cell transplant. For more information about this study, click here to link to ClinicalTrials.gov.
     
  • Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa. This study launched in December 2010, led by principal investigator and associate professor at Stanford University Jean Yuh Tang, and was last verified in March 2016. The interventional study is 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.
     
  • Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin. Launched in September 2015 and last verified in October 2015, this study led by Johns Hopkins University (Baltimore, MD) features adult participants who will apply a broccoli sprout extract-jojoba oil compound to one arm every night under occlusion for a week with Jojoba oil alone applied to the other arm. At the end of that week, a 6mm punch biopsy will be taken from both arms and analyzed via polymerase chain reaction (PCR) and immunohistochemistry for differences in skin proteins.  For more information about this study, click here to link to ClinicalTrials.gov.
     
  • MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs. As one of the newest studies launched in March 2016 and last verified in May 2016, this study by the Masonic Cancer Center at the University of Minnesota is a phase II study established to determine the event-free survival at 1-year following an allogeneic transplant and serial mesenchymal stem cell (MSC) infusions from a related donor or matched unrelated donor for the biochemical correction of severe EB. For more information about this study, click here to link to ClinicalTrials.gov.
     
  • A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB). This study, launched and verified in June 2016, is led by Fibrocell Technologies and administered at Stanford University (Stanford, CA). The purpose of the study is to evaluate the safety of FCX-007, C7 expression and the presence of anchoring fibrils resulting from FCX-007 and to analyze wound healing as a result of FCX-007 administration in subjects with RDEB. For more information about this study, click here to link to ClinicalTrials.gov.

Thanking Those Who Spread the Word

 

Thanksgiving is a time during which many of us attempt to slow down (except during meal preparation) to remind ourselves what we have to be thankful for, so we think this is a perfect time here at EB Resource to do some thanking of our own.

 

When we set up EB Resource nearly five years ago, one of our core goals was to help members of the EB community connect with one another as well as with resources available to them in the medical, nonprofit and medical supply fields. We would not be able to set out to achieve this goal every day if it weren’t for the following invaluable people.

 

  • Nonprofits devoted to supporting EB Awareness and support for families impacted by the disease – From DebRA and EBMRF to EB Research Partnership and I Refuse EB, and several other grass roots organizations and groups of various sizes, these groups and individuals have dedicated themselves to finding their own unique niche for drawing more attention to the cause and raising funds for the particular need they hope to address. Each may have its own distinct goals and strategies but there is one tie that binds them all and that is a collective commitment to take action and inspire others to join in a movement to support the EB community.
     
  • Medical and Educational Institutions which have committed resources to EB research – Physicians and scientists are more readily joining forces on both the care and research fronts to develop and test new and improved treatments and explore potentially groundbreaking trials in the hopes of finding a cure for the disease. With care and research teams committed at such innovative institutions as University of Minnesota, University of Cincinnati Children’s Center and Stanford University, among others, many of us in the EB community remain hopeful that these brilliant minds will uncover new and promising developments.
     
  • Parents and Other EB Caregivers who share their story in the media, in their communities and online to educate others – We frequently share on EB Resource posts that spotlight EB families from across the world who have reached out to their local media to gain greater attention for their story and for the EB community as a whole. Each time a new link is cataloged on Google and other search engines, we offer another window for a glimpse at life with EB. Though we know that every story does not capture the same poignancy, accuracy or depth of the story, we are still encouraged that a growing number of media organizations are beginning to dig deep into the EB story, and we owe it to the many parents and caregivers who have shared their own family’s struggles through these articles, their own blogs or books to educate others about epidermolysis bullosa.
     
  • Supporters within and outside of the EB community who participated this year and in our past EB Tweetathons – We place much value on circles of influence and regardless of how you use your own social media accounts, so we thank those Twitter users who relay our annual messages during EB Awareness Week to their online friends and followers to help us educate and motivate others to get involved in raising EB awareness. We know it can take time, energy and diligence to retweet them all, but some of you do all that you can to make it happen and we so appreciate all who have taken part. Thank you!
     
  • Other Supporters, whether in manufacturing, the arts, business or other sectors – Messages continue to move out into the mainstream media from sources as diverse as Pearl Jam frontman, Eddie Vedder to tennis great, Mats Wilander to medical supply companies and large corporations, college groups, playwrights, photographers, actors and more who find unique ways to use their forum, audience or talents to shine a different light on EB and the people affected by it.

 

We are grateful to all of you for the many ways you’ve used your tools and voices to speak up for the EB community. And during this month of thankfulness, we hoist a mug of cinnamon-tinged apple cider or pumpkin-spiced latte around the dinner table of our EB community.

 

Thank you for all you do.

The Latest in EB Research

A number of clinical trials are presently recruiting or already in progress that may have a tremendous impact on the EB community. By accessing the U.S. National Institutes of Health (NIH) website, we are able to offer a useful summary of these research trials that have been logged by the NIH.

Currently, there are 12 open, international, EB clinical research trials listed as active, with three of the studies not yet recruiting and three of the other international studies listed with unknown recruiting status. Of the remaining six EB research studies which are open and recruiting, four of them are being run within the United States and two are active in other internationally-based locations.

The following summary spotlights key background information related to the four open and recruiting U.S. studies. For the complete, up-to-date details about each of the EB studies open and recruiting here in the U.S. as well as internationally, please visit the NIH’s Clinical Trials page here: 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 principal investigator and associate professor at Stanford University Jean Yuh Tang, this study launched in December 2010 and was last verified in February 2015. The study is 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 April 2015, 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. A secondary hypothesis also examines the impact of mesenchymal stem cells from a healthy donor on the safety and efficacy of an allogeneic hematopoietic stem cell transplant. For more information about this study, click here to link to ClinicalTrials.gov.

 

  • Characteristics of Patients with Dystrophic Epidermolysis Bullosa. Jean Yuh Tang at Stanford University is also conducting a strictly observational study by screening subjects with DEB to evaluate the characteristics of these patients, who may develop severely painful blistering and open wounds. Last verified in February 2015, 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.
     
  • Study of Efficacy and Safety of SD-101 Cream in Patients with Epidermolysis Bullosa. Sponsored by Scioderm, Inc., the target of this study is to evaluate the efficacy and safety of SD-101-6.0 cream versus a placebo in the treatment of EB. Launched in November 2009 and last verified in May 2015, this study is currently recruiting participants in various locations across the U.S. including the University of Colorado School of Medicine (Aurora, CO), Ann & Robert H. Lurie Children's Hospital of Chicago (Chicago, IL), Washington University School of Medicine (St. Louis, MO), University of North Carolina School of Medicine (Chapel Hill, NC), Cincinnati Children's Hospital Medical Center (Cincinnati, OH), and Texas Dermatology and Laser Specialists (San Antonio, TX), as well as in France, Italy, Austria, and the U.K. For more information about this study, click here to link to ClinicalTrials.gov.

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.

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.

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.