Auto-antibodies in patients with epidermolysis bullosa and revertant mosaicism

Auto-antibodies in patients with epidermolysis bullosa and revertant mosaicism - Auto-antibodies in epidermolysis bullosa and revertant mosaicism

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON38779

Enrollment

Registered

2013-10-23

Start date

2013-06-24

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

genetic skin condition Inherited blistering disease - epidermolysis bullosa

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: Contraindication to venepuncture.

Design outcomes

Primary

Measure	Time frame
1. Number and percentage of patients in which circulating auto-antibodies are found. Corresponding subgroups of study group and control group as well as the whole study group and control group are compared.	—

Secondary

Measure	Time frame
1. Number and percentage of patients in which auto-antibodies are found to bind to their skin. 2. Presence of epitopes within detected auto-antibodies that correspond to epitopes known to cause auto-immune blistering disease.	—

Countries

Netherlands

Outcome results