Recruiting

Observational Study

Sponsor:

Joyce Teng

Code:

NCT03269474

Conditions

Epidermolysis Bullosa

Healthy

Genetic Skin Disease

Epidermolysis Bullosa Simplex

Epidermolysis Bullosa, Junctional

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Interventions

Experimental Group

Study Details

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.

Conditions

Epidermolysis Bullosa

Healthy

Genetic Skin Disease

Epidermolysis Bullosa Simplex

Epidermolysis Bullosa, Junctional

Study ID

NCT03269474

Start date

Nov 28, 2017

Status verified date

Feb, 2024

Completion date

Dec 31, 2024

Anticipated

Primary completion date

Dec 30, 2024

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

60 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

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.

Interventions

Experimental Group

Subjects with EB diagnosis

Primary outcome measure

  • 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. ]

Central Contacts and Locations

Central contacts

Locations

Pediatric Dermatology Clinic at Stanford Children's Hospital

Recruiting

Palo Alto, California, United States, 94304

Contacts

Principal Investigator:

Joyce M Teng, MD, PhD

More Information

Sponsor

Joyce Teng

Last update posted

Feb 13, 2024

Last verified

Feb, 2024

Keywords

  • epidermolysis bullosa
  • genetic expression
  • drug repurposing
  • computational approaches
  • drug discovery

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Joyce Teng on 2024-02-13.