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.

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.

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.

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