Clinical Trial: Genetic Variants in Linear Localized Scleroderma
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional
Official Title: Investigation of the Genetic Architecture of Linear Localized Scleroderma (LLS) (Linear Morphea) by Whole Exome Sequencing. A Tailored Approach to Test the Hypothesis That
Brief Summary: The purpose of this study is to investigate the genetic architecture of Linear Localized Scleroderma (LLS) (linear morphea) by whole exome sequencing.
Detailed Summary:
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.
Sponsor: University Children's Hospital, Zurich
Current Primary Outcome: number of key genes /number of mutations in LLS (localized linear scleroderma) [ Time Frame: 24-30 months ]
Original Primary Outcome: Same as current
Current Secondary Outcome: the investigation of the protein network of the identified key genes in order to assess their biological function and their relevance in the pathogenesis of LLS. [ Time Frame: 24-30 months ]
Original Secondary Outcome: Same as current
Information By: University Children's Hospital, Zurich
Dates:
Date Received: July 21, 2014
Date Started: August 2014
Date Completion: June 2017
Last Updated: February 4, 2016
Last Verified: January 2016
