sing next generation sequencing to find causative genes in patients with epidermolysis bullosa

Completed

• Conditions: butterfly child disease; inherited blistering disease; 10014982

• Registration Number: NL-OMON40473
• 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: 20

Inclusion Criteria

-Clinically diagnosed EB or fmaily member of EB patient
-Antigen mapping and/or electron microscopy of a skin biopsy confirming the diagnosis of EB.
-No known mutation in one of the EB genes.
-Signed Informed consent

Exclusion Criteria

Lack of informed consent

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>•To explore the use of exome sequencing in the diagnostic evaluation of<br /><br>patients with epidermolysis bullosa, without mutations in one of the known EB<br /><br>genes.<br /><br>•To identify new genes and genotypes causing epidermolysis bullosa.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>•To correlate newly identified genes with their associated phenotypes.<br /><br>•To expand the Skin Panel list of EB genes.</p><br>