An observational study in Epidermolysis Bullosa, Healthy and Genetic Skin Disease, sponsored by Joyce Teng. Recruiting at 1 site in United States. Open to participants aged 0 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-02-13.
Sponsored by Joyce Teng · Observational
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.
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.
Subject of all ages with either 1) a diagnosis of EB subjects or 2) healthy, non-EB subjects
Exclusion Criteria:
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
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
Characterize gene expression changes in EB using RNA sequencing (RNA-seq) and Computational Profiling Potential Drug Targets
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.
Time frame: Through the completion of study in 1 year.
Plan to share: No — 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 clinicaltrials.gov community and researchers for this vulnerable population study.
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Joyce Teng