Clinical trial NCT02178969: Short Term Observational Study in DEB Patients
Official title: 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)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Dystrophic Epidermolysis Bullosa
Lead sponsor: Takeda
Sponsor class: INDUSTRY
First posted: 2014-07-01
Enrollment: 29
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with DEB.

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Wound Surface Area (WSA) of patient- and investigator-selected wounds
timeFrame: Over 4 weeks
measure: Wound Surface Area (WSA) as a percentage of Body Surface Area (BSA) in patients with DEB
timeFrame: Over 4 weeks
Secondary outcomes:
measure: The number, severity and relationship to study procedures of adverse events (AEs) and serious AEs (SAEs)
timeFrame: Over 4 weeks
Other outcomes:
Locations:
city: Chicago
country: United States
facility: Ann and Robert H Lurie Childrens Hospital of Chicago
state: Illinois
city: New York
country: United States
facility: Columbia University Medical Center
state: New York
city: Cincinnati
country: United States
facility: Cincinnati Childrens Hospital Medical Center
state: Ohio
city: Kogarah
country: Australia
facility: Premier Specialists Pty Ltd
city: Salzburg
country: Austria
facility: Salzburger Landeskliniken
city: Brno
country: Czechia
facility: Fakultni nemocnice Brno
city: Paris
country: France
facility: Service de Génétique et INSERM UMR 1163, Laboratoire de Génétique des maladies cutanées - Institut Imagine
city: Freiburg im Breisgau
country: Germany
facility: Universitätsklinikum Freiburg
city: Roma
country: Italy
facility: Ospedale Pediatrico Bambino Gesù
city: Rome
country: Italy
facility: Istituto Dermopatico Dell'immacolata IRCCS
Study officials:
affiliation: Takeda
name: Study Director
role: STUDY_DIRECTOR
References:
citation: 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.