CClinicalTrials.gg
CompletedNCT02178969Updated Mar 17, 2021

Short Term Observational Study in DEB Patients

An observational study in Dystrophic Epidermolysis Bullosa, sponsored by Shire. Completed at 10 sites in 7 countries. Per ClinicalTrials.gov, last updated 2021-03-17.

Sponsored by Shire · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
29
Sex
All
01

Study 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.

02

Conditions studied

  • Dystrophic Epidermolysis Bullosa
03

In context

Epidermolysis Bullosa

126 studies on the registry are indexed under Epidermolysis Bullosa; 23 are open to participants now.

This study's enrollment of 29 is close to the median of 30 across 22 observational studies indexed under Epidermolysis Bullosa.

Browse Epidermolysis Bullosa studies →

Lead sponsor

Shire is the lead sponsor of 346 studies on the registry; 2 are open to participants now.

Of its 47 completed or terminated interventional studies of FDA-regulated products, 47 (100%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Patients with DEB.

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

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.
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
29 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. Wound Surface Area (WSA) of patient- and investigator-selected wounds

    Time frame: Over 4 weeks

  2. Wound Surface Area (WSA) as a percentage of Body Surface Area (BSA) in patients with DEB

    Time frame: Over 4 weeks

Secondary outcomes

  1. The number, severity and relationship to study procedures of adverse events (AEs) and serious AEs (SAEs)

    Time frame: Over 4 weeks

07

Study locations

10 sites
  • Ann and Robert H Lurie Childrens Hospital of Chicago
    Chicago, Illinois 60611, United States
  • Columbia University Medical Center
    New York, New York 10032, United States
  • Cincinnati Childrens Hospital Medical Center
    Cincinnati, Ohio 45229, United States
  • Premier Specialists Pty Ltd
    Kogarah, 2217, Australia
  • Salzburger Landeskliniken
    Salzburg, 5020, Austria
  • Fakultni nemocnice Brno
    Brno, 613 00, Czechia
  • Service de Génétique et INSERM UMR 1163, Laboratoire de Génétique des maladies cutanées - Institut Imagine
    Paris, France
  • Universitätsklinikum Freiburg
    Freiburg im Breisgau, 79104, Germany
  • Ospedale Pediatrico Bambino Gesù
    Roma, 00165, Italy
  • Istituto Dermopatico Dell'immacolata IRCCS
    Rome, 00167, Italy
08

References and documents

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. PubMed 35964087 ↗
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Mar 17, 2021, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT02178969
Lead sponsor
Shire
Responsible party
Sponsor
First posted
Jul 1, 2014
Start date
Jun 24, 2014
Primary completion
Feb 23, 2015
Completion
Feb 23, 2015
Last update
Mar 17, 2021

Study contacts

Study Director
study director · Takeda

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Mar 2021. You cannot join it, but the record below documents what was studied.

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