Short Term Observational Study in DEB Patients

A Prospective Short-term Study to Evaluate Methodologies for the Assessment of Disease Extent, Impact, and Wound Evolution in Patients With Dystrophic Epidermolysis Bullosa (DEB)

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.

Study Overview

• Status: Completed
• Conditions: Dystrophic Epidermolysis Bullosa

• Study Type: Observational
• Enrollment (Actual): 29

Contacts and Locations

Study Locations

• Australia
  • Kogarah, Australia, 2217
    • Premier Specialists Pty Ltd
• Austria
  • Salzburg, Austria, 5020
    • Salzburger Landeskliniken
• Czechia
  • Brno, Czechia, 613 00
    • Fakultní nemocnice Brno
• France
  • Paris, France
    • Service de Génétique et INSERM UMR 1163, Laboratoire de Génétique des maladies cutanées - Institut Imagine
• Germany
  • Freiburg im Breisgau, Germany, 79104
    • Universitätsklinikum Freiburg
• Italy
  • Roma, Italy, 00165
    • Ospedale Pediatrico Bambino Gesù
  • Rome, Italy, 00167
    • Istituto Dermopatico dell'Immacolata IRCCS
• United States
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Ann and Robert H Lurie Childrens Hospital of Chicago
  • New York
    • New York, New York, United States, 10032
      • Columbia University Medical Center
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Childrens Hospital Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with DEB.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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

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

Collaborators and Investigators

• Sponsor: Shire

Publications and helpful links

General Publications

• Paller AS, Pope E, Rudin D, Malyala A, Ramsdell D, Johnson R, Landy H, Murrell DF; DEB Investigators. A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa. Orphanet J Rare Dis. 2022 Aug 13;17(1):314. doi: 10.1186/s13023-022-02461-z.

Helpful Links

• To obtain more information on the study, click here/on this link.

Study record dates

Study Major Dates

• Study Start (ACTUAL): June 24, 2014
• Primary Completion (ACTUAL): February 23, 2015
• Study Completion (ACTUAL): February 23, 2015

Study Registration Dates

• First Submitted: June 4, 2014
• First Submitted That Met QC Criteria: June 27, 2014
• First Posted (ESTIMATE): July 1, 2014

Study Record Updates

• Last Update Posted (ACTUAL): March 17, 2021
• Last Update Submitted That Met QC Criteria: March 15, 2021
• Last Verified: March 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin Diseases, Genetic; Skin Diseases, Vesiculobullous; Skin Abnormalities; Collagen Diseases; Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica
• Other Study ID Numbers: SHP-608-002