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.

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.