Computational Drug Repurposing for All EBS Cases

NCT ID: NCT03269474

Last Updated: 2024-02-13

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 60 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-11-28
• Study Completion Date: 2024-12-31

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.

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.

Conditions

Epidermolysis Bullosa; Healthy; Genetic Skin Disease; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa, Junctional; Epidermolysis Bullosa Dystrophica

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

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.

Experimental Group

Intervention Type: PROCEDURE

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.

Experimental Group

Intervention Type: PROCEDURE

Subjects with EB diagnosis

Interventions

Experimental Group

Subjects with EB diagnosis

Intervention Type: PROCEDURE

Eligibility Criteria

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

• Minimum Eligible Age: 0 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Joyce Teng

OTHER

Sponsor Role: lead

Responsible Party

Joyce Teng

Director of Pediatric Dermatology

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Joyce M Teng, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Stanford University

Locations

Pediatric Dermatology Clinic at Stanford Children's Hospital

Palo Alto, California, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Monica Martin

Role: CONTACT

momartin@stanford.edu

650-723-0636

Facility Contacts

Monica Martin

Role: primary

PediatricDermStudy@stanford.edu

650-723-0636

Elidia V Tafoya, MPH

Role: backup

PediatricDermStudy@stanford.edu

650-724-1982

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Other Identifiers

41142

Identifier Type: -

Identifier Source: org_study_id