NCT01019148

Brief Summary

Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by genetic mutations in the gene for type VII collagen. Patients with RDEB develop large, severely painful blisters and open wounds from minor trauma to their skin. We are screening subjects with RDEB to evaluate characteristics of the subjects and their cells in order to develop new strategies of therapy and determine whether subjects could be candidates for treatment studies.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
70

participants targeted

Target at P25-P50 for all trials

Timeline
41mo left

Started Nov 2009

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress83%
Nov 2009Dec 2029

Study Start

First participant enrolled

November 10, 2009

Completed
10 days until next milestone

First Submitted

Initial submission to the registry

November 20, 2009

Completed
5 days until next milestone

First Posted

Study publicly available on registry

November 25, 2009

Completed
20.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2029

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2029

Last Updated

April 24, 2026

Status Verified

April 1, 2026

Enrollment Period

20.2 years

First QC Date

November 20, 2009

Last Update Submit

April 21, 2026

Conditions

Epidermolysis Bullosa Dystrophica

Outcome Measures

Primary Outcomes (1)

  • Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa

    Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa for future studies

    10 years

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients diagnosed with RDEB by a local dermatologist who are medically stable enough to travel to Stanford University Medical Center. Patients should also be at least 7 years of age.

You may qualify if:

  • Clinical diagnosis of RDEB by local dermatologist
  • years of age or older

You may not qualify if:

  • Medical instability limiting ability to travel to Stanford University Medical Center

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Stanford University School of Medicine

Stanford, California, 94305, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Skin biopsies, serum

MeSH Terms

Conditions

Epidermolysis Bullosa Dystrophica

Condition Hierarchy (Ancestors)

Epidermolysis BullosaSkin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornCollagen DiseasesConnective Tissue DiseasesSkin and Connective Tissue DiseasesSkin DiseasesSkin Diseases, Vesiculobullous

Study Officials

  • Jean Tang, MD, PhD

    Stanford University

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Irene Bailey-Healy

CONTACT

(650) 721-7149baileyhi@stanford.edu

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

November 20, 2009

First Posted

November 25, 2009

Study Start

November 10, 2009

Primary Completion (Estimated)

December 31, 2029

Study Completion (Estimated)

December 31, 2029

Last Updated

April 24, 2026

Record last verified: 2026-04

Locations

US(1)