Short Term Observational Study in DEB Patients

Completed

• Conditions: Dystrophic Epidermolysis Bullosa

• Registration Number: NCT02178969
• Lead Sponsor: Shire

Brief Summary

The purpose of this study is to better understand disease extent and to identify appropriate methodologies to evaluate (dystrophic epidermolysis bullosa) DEB in a quantitative and qualitative manner.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2014-06-04
• Study Start: 2014-06-24
• Study First Submitted QC: 2014-06-27
• Study First Posted: 2014-07-01
• Primary Completion: 2015-02-23
• Study Completion: 2015-02-23
• Status Verified: 2021-03
• Last Update Submitted: 2021-03-15
• Last Update Posted: 2021-03-17

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 29

Inclusion Criteria

1. Written informed consent is provided. Patients 18 years of age and older, and parent(s)/legal guardian(s) of patients younger than 18 years of age, must provide written informed consent prior to participating in the study; additionally, informed assent will be obtained from patients younger than 18 years of age as specified by local requirements.
2. Patient must have a documented diagnosis of DEB based on genetic analysis showing a mutation in COL7A1 or, in the opinion of the investigator, a confirmed diagnosis of DEB based on histologic criteria (antigen mapping or electron microscopy).
3. Patient must have at least 5 wounds that are suitable for imaging, in the opinion of the investigator, at the time of enrollment.
4. Patient is willing and able to undergo the protocol-specified procedures.

Exclusion Criteria

1. Patient has used or is currently using experimental treatment for DEB including, but not limited to, bone marrow transplantation, systemic immune suppression, or experimental procedures that involve live cells, with potential for systemic spread such as gene transfer, stem cell infusions, or other cell type injections such that, in the opinion of the investigator, inclusion poses an unacceptable risk to the patient or interpretation of these study data.
2. Patient has squamous cell carcinoma with evidence of locally invasive disease or distant metastases.
3. Patient is pregnant.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Wound Surface Area (WSA) of patient- and investigator-selected wounds	Over 4 weeks
Wound Surface Area (WSA) as a percentage of Body Surface Area (BSA) in patients with DEB	Over 4 weeks

Secondary Outcome Measures

Name	Time	Method
The number, severity and relationship to study procedures of adverse events (AEs) and serious AEs (SAEs)	Over 4 weeks

Trial Locations

Locations (10)

Cincinnati Childrens Hospital Medical Center; 🇺🇸 Cincinnati, Ohio, United States

Salzburger Landeskliniken; 🇦🇹 Salzburg, Austria

Universitätsklinikum Freiburg; 🇩🇪 Freiburg im Breisgau, Germany

Ann and Robert H Lurie Childrens Hospital of Chicago; 🇺🇸 Chicago, Illinois, United States

Istituto Dermopatico Dell'immacolata IRCCS; 🇮🇹 Rome, Italy

Columbia University Medical Center; 🇺🇸 New York, New York, United States

Premier Specialists Pty Ltd; 🇦🇺 Kogarah, Australia

Fakultni nemocnice Brno; 🇨🇿 Brno, Czechia

Service de Génétique et INSERM UMR 1163, Laboratoire de Génétique des maladies cutanées - Institut Imagine; 🇫🇷 Paris, France

Ospedale Pediatrico Bambino Gesù; 🇮🇹 Roma, Italy