Auto-antibodies in patients with epidermolysis bullosa and revertant mosaicism

Completed

• Conditions: genetic skin condition; Inherited blistering disease - epidermolysis bullosa; 10040789

• Registration Number: NL-OMON38779
• Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 28

Inclusion Criteria

The patients are selected from the EB-database of the Department of Dermatology, UMCG, Groningen. ;In order to be eligible to participate in this study, a subject must meet all of the following criteria:
- Diagnosis: EB due to mutation in one of the following genes: COL17A1, LAMB3 and COL7A1.
- > 10 years of age.
- Informed consent acquired.
- Archived biopsy specimen present.

Exclusion Criteria

Contraindication to venepuncture.

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>1. Number and percentage of patients in which circulating auto-antibodies are<br /><br>found. Corresponding subgroups of study group and control group as well as the<br /><br>whole study group and control group are compared. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1. Number and percentage of patients in which auto-antibodies are found to bind<br /><br>to their skin.<br /><br><br /><br>2. Presence of epitopes within detected auto-antibodies that correspond to<br /><br>epitopes known to cause auto-immune blistering disease.</p><br>