Short Term Observational Study in DEB Patients

Shire

Status: Completed

Conditions: Dystrophic Epidermolysis Bullosa

Study type: Observational

Funder types: Industry

Identifiers

NCT02178969

SHP-608-002

Details and patient eligibility

About

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.

Enrollment: 29 patients

Sex: All

Volunteers: No Healthy Volunteers

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.