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Genetic Variants in Linear Localized Scleroderma

Primary Purpose

Morphea

Status

Completed

Phase

Not Applicable

Locations

Switzerland

Study Type

Interventional

Intervention

skin biopsy

About this trial

This is an interventional basic science trial for Morphea

Eligibility Criteria

5 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

Male or female subjects ≥ 5 years of age with well phenotyped LLS
Affecting their head and / or face "termed " en coup de sabre " type LLS or Hemiatrophia faciei or Parry-Romberg syndrome, with or without therapy
Affecting any site of the body except the head or face, with or without therapy

Exclusion Criteria:

Patients with signs of systemic scleroderma
Patients with localized scleroderma (morphea) other than the linear type ("plaque-type", "morphea profunda", "generalized morphea") Patients with diagnosed gadolinium induced scleroderma Patients with post-irradiation scleroderma Patients with missing consent

Sites / Locations

University Children's Hospital, Department of Pediatric Dermatology
University Hospital, Department of Dermatology

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

skin biopsy

Arm Description

4mm punch biopsy

Outcomes

Primary Outcome Measures

number of key genes /number of mutations in LLS (localized linear scleroderma)

Secondary Outcome Measures

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.

Full Information

NCT ID

NCT02222038

First Posted

July 21, 2014

Last Updated

November 9, 2020

Sponsor

University Children's Hospital, Zurich

1. Study Identification

Unique Protocol Identification Number

NCT02222038

Brief Title

Genetic Variants in Linear Localized Scleroderma

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 LLS is a Genetic Mosaic Condition

Study Type

Interventional

2. Study Status

Record Verification Date

November 2020

Overall Recruitment Status

Completed

Study Start Date

August 2014 (undefined)

Primary Completion Date

October 2017 (Actual)

Study Completion Date

October 31, 2017 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

University Children's Hospital, Zurich

4. Oversight

Data Monitoring Committee

5. Study Description

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 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Morphea

7. Study Design

Primary Purpose

Basic Science

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

N/A

Enrollment

50 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title

skin biopsy

Arm Type

Other

Arm Description

4mm punch biopsy

Intervention Type

Other

Intervention Name(s)

skin biopsy

Primary Outcome Measure Information:

Title

number of key genes /number of mutations in LLS (localized linear scleroderma)

Time Frame

24-30 months

Secondary Outcome Measure Information:

Title

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

10. Eligibility

Sex

All

Minimum Age & Unit of Time

5 Years

Accepts Healthy Volunteers

Eligibility Criteria

Inclusion Criteria: Male or female subjects ≥ 5 years of age with well phenotyped LLS Affecting their head and / or face "termed " en coup de sabre " type LLS or Hemiatrophia faciei or Parry-Romberg syndrome, with or without therapy Affecting any site of the body except the head or face, with or without therapy Exclusion Criteria: Patients with signs of systemic scleroderma Patients with localized scleroderma (morphea) other than the linear type ("plaque-type", "morphea profunda", "generalized morphea") Patients with diagnosed gadolinium induced scleroderma Patients with post-irradiation scleroderma Patients with missing consent

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Lisa Weibel, MD

Organizational Affiliation

Department Pediatric Dermatology University Children's Hospital Zurich

Official's Role

Principal Investigator

Facility Information:

Facility Name

University Children's Hospital, Department of Pediatric Dermatology

City

Zurich

ZIP/Postal Code

8032

Country

Switzerland

Facility Name

University Hospital, Department of Dermatology

City

Zurich

ZIP/Postal Code

8091

Country

Switzerland

12. IPD Sharing Statement

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Genetic Variants in Linear Localized Scleroderma

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