NCT02222038

Genetic Variants in Linear Localized Scleroderma

Investigation of the Genetic Architecture of Linear Localized Scleroderma (LLS) (Linear Morphea) by Whole Exome Sequencing. A Tailored Approach to Test the Hypothesis That LLS is a Genetic Mosaic Condition

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 50 (estimated)
• Sponsor: University Children's Hospital, Zurich · Academic / Other
• Sex: All
• Age: 5 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to investigate the genetic architecture of Linear Localized Scleroderma (LLS) (linear morphea) by whole exome sequencing.

Detailed description

At present the etiology of LLS is unknown, but a genetic background is suspected. Although LLS clearly classifies as a mosaic disorder, its genetics and protein machinery remain to be understood. We are going to use a tailored approach to identify the genetic factors of LLS. In the first phase of the study we will investigate the genetic architecture in LLS. WES will analyze whole protein coding DNA in skin samples of 50 consenting LLS patient. The aim is to identify the key genes associated with LLS. In the second phase of the study subsequent functional experiments will be performed. Based on the identified candidate genes, knockdown and overexpression models will be created with relevant cell lines (fibroblasts) to identify the biological consequences and confirm the functional relevance of the identified genetic mutations in LLS. Further the protein network active in LLS will be investigated (proteomic analysis). The described basic genetic studies combined with functional experiments will lay the groundwork for treatment trials to provide possibly novel treatment options.

Conditions

• Morphea

Interventions

Type	Name	Description
OTHER	skin biopsy

Timeline

• Start date: 2014-08-01
• Primary completion: 2017-10-01
• Completion: 2017-10-31
• First posted: 2014-08-21
• Last updated: 2020-11-10

Locations

2 sites across 1 country: Switzerland