Actively Recruiting

All Genders
ID01019148

Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

Led by Stanford University · Updated on 2026-04-24

70

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

This research aims to better understand recessive dystrophic epidermolysis bullosa (RDEB), a genetic skin condition causing painful blisters and wounds from minor skin injuries. Researchers are screening patients with RDEB to study their symptoms and cell characteristics to help develop new therapy approaches and identify candidates for future treatment trials. Participants will undergo detailed medical history review, skin and physical examinations, and photographs of wounds. Blood tests will check overall health including Hepatitis B, Hepatitis C, and HIV, with possible genetic testing. Skin biopsies may be taken to assess Collagen 7 and related antibodies. Throughout the study, researchers will collect information to identify suitable patients for ongoing or future clinical trials. The main outcome is identifying RDEB subjects over a period of 10 years. Participant involvement includes medical assessments, laboratory tests, and biopsies as needed, with no treatment provided during this observational study.

CONDITIONS

Brief Title

Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Clinical diagnosis of recessive dystrophic epidermolysis bullosa by a dermatologist
  • 7 years of age or older
Not Eligible

You will not qualify if you...

  • Medical instability that limits the ability to travel to the medical center

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Initial assessment period

Participants provide medical history and undergo skin and physical examinations, with possible photographs and biopsies to assess disease characteristics and collect lab tests.

1 to 2 visits depending on assessments

Long-term Monitoring

Duration - Up to 10 years

Participants are observed over time to identify disease characteristics and outcomes.

Visits as scheduled for follow-up assessments

Trial Site Locations

Total: 1 location

1

Stanford University School of Medicine

Stanford, California, United States, 94305

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Research Team

I

Irene Bailey-Healy

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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