Genetic Risk Factors of the Sneddon Syndrome

Plain-language summary

This study examined the genetic risk factors of Sneddon syndrome using exome sequencing and Sanger sequencing. It enrolled people aged 18 and older with a clinical diagnosis of Sneddon syndrome and their family members. It is a non-phase study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

Karl Landsteiner University of Health Sciences

Intervention

Exome Sequencing and Sanger Sequencing

Start date

5/12/2021

Estimated completion

11/8/2024

Countries

Austria

Related genes

Locations

• Sankt Pölten, Austria

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Subjects must be at least 18years old.
* Affected subjects must have been clinically diagnosed with Sneddon Syndrome. When analyzing families with Sneddon syndrome, healthy family members and participants with only symptoms of the skin will be included if consent is obtained.Frau Elli Greisenegger
* Unaffected subjects or subjects with symptoms restricted to the skin must have at least one family member with the clinical diagnosis Sneddon syndrome participating in the study.
* Subjects must be able to communicate well with the investigator, to understand the requirements of the study, as well as to understand and sign thewritten informed consent(= informed consent approved by thelocalethics committee).

Exclusion Criteria:

\- Subjects who are unable to communicate well with the investigator, to understand the requirements of the study, as well as to understand and sign the written informed consent, are not eligible for inclusion in this study.