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Computational Drug Repurposing for All EBS Cases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03269474
Recruitment Status : Active, not recruiting
First Posted : August 31, 2017
Last Update Posted : October 27, 2020
Information provided by (Responsible Party):
Joyce Teng, Stanford University

Brief Summary:
The study will compare gene expression differences between blistered and non-blistered skin from individuals with all subtypes of EB, as well as normal skin from non-EB subjects. State of the art computational analysis will be performed to help identify new drugs that might help all EB wound healing and reduce pain. Researchers will focus on drugs that have already been approved for treatment of other dermatologic or non-dermatologic diseases, and therefore be repurposed for treatment of EB. Drug development is a very expensive process taking decades for execution. Drug repurposing on the other hand, significantly reduces the cost and shortens the amount of time that is needed to bring effective treatments to clinical use. To date, there is no specific treatment targeting the physiology and immunologic response in EB patients during wound healing. Market availability of repurposed medications will provide all EB patients rapid access to treatments, thus improving their quality of life.

Condition or disease Intervention/treatment
Epidermolysis Bullosa Healthy Genetic Skin Disease Epidermolysis Bullosa Simplex Epidermolysis Bullosa, Junctional Epidermolysis Bullosa Dystrophica Procedure: Experimental Group

Detailed Description:
Although gene, cell, and protein-based therapies are in development for patients suffering from all subtypes of epidermolysis bullosa (EB), new pharmacological treatments are in dire need. Characterizing molecular changes in EB, including gene expression, can identify new therapeutic targets and drugs that modulate those targets. However, sifting through gene expression information to identify the most promising drug targets is a complex data challenge. The goal of the study will identify a computational approach to evaluate and identify existing drugs approved for other diseases that can be repurposed for EB patients. The study will perform an unprecedented characterization of gene expression changes in EB patients compared to healthy, non-EB individuals across multiple tissues. Using a validated computational drug discovery platform, researchers will analyze gene expression and drug data using unique algorithms. In the first year, a list of ten, safety drugs more probable to treat the EB disease state will be identified. The most promising drugs discovered will then be tested in the clinic setting.

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Study Type : Observational
Actual Enrollment : 40 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Computational Drug Repurposing for All Epidermolysis Bullosa Simplex (EBS) Cases
Actual Study Start Date : November 28, 2017
Estimated Primary Completion Date : December 30, 2020
Estimated Study Completion Date : December 31, 2020

Group/Cohort Intervention/treatment
Experimental Group
Blood and tissue specimen will be collected from subjects with an EB diagnosis. Tissue specimen will be collected from blistered and nonblistered skin.
Procedure: Experimental Group
Subjects with EB diagnosis

Control Group
Blood and tissue specimen will be collected from healthy subjects with non-EB. Tissue specimen will be collected from an inconspicuous skin area.
Procedure: Experimental Group
Subjects with EB diagnosis

Primary Outcome Measures :
  1. Characterize gene expression changes in EB using RNA sequencing (RNA-seq) and Computational Profiling Potential Drug Targets [ Time Frame: Through the completion of study in 1 year. ]
    Using bioinformatic algorithms to identify changes in gene expression and review of over 2000 FDA-approved drugs based on predicted modulation of gene expression changes using a computational evolutionary algorithm system.

Biospecimen Retention:   Samples With DNA
Punch biopsies of non-blistering and blistering skin, and peripheral blood mononuclear cells (PBMCs): CD8+ cytotoxic T cells and CD4+ helper T cells.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Subject of all ages with either 1) a diagnosis of EB subjects or 2) healthy, non-EB subjects

Inclusion Criteria:

  • Subjects of all ages
  • Diagnosis of all subtypes of EB subjects
  • Healthy, non-EB subjects
  • Ability to complete study visit to collect tissue and blood specimen

Exclusion Criteria:

  • Pregnancy, breast feeding
  • Prior history of liver disease
  • Serious known concurrent medical illness or infection, which could potentially present a safety risk and/or prevent tissue collection from subjects

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03269474

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United States, California
Pediatric Dermatology Clinic at Stanford Children's Hospital
Palo Alto, California, United States, 94304
Sponsors and Collaborators
Joyce Teng
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Principal Investigator: Joyce M Teng, MD, PhD Stanford University
Publications of Results:

Other Publications:

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Responsible Party: Joyce Teng, Director of Pediatric Dermatology, Stanford University Identifier: NCT03269474    
Other Study ID Numbers: 41142
First Posted: August 31, 2017    Key Record Dates
Last Update Posted: October 27, 2020
Last Verified: October 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: As of now, there are no plans to share the data with other researchers. Once the outcome measures have been accomplished, the research team will publish results for the entire community and researchers for this vulnerable population study.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Joyce Teng, Stanford University:
epidermolysis bullosa
genetic expression
drug repurposing
computational approaches
drug discovery
Additional relevant MeSH terms:
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Epidermolysis Bullosa
Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Dystrophica
Skin Diseases, Genetic
Epidermolysis Bullosa, Junctional
Skin Diseases
Skin Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Vesiculobullous
Collagen Diseases
Connective Tissue Diseases