Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
NA
50 participants
INTERVENTIONAL
2014-08-31
2017-10-31
Brief Summary
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Detailed Description
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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
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Study Design
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NA
SINGLE_GROUP
BASIC_SCIENCE
NONE
Study Groups
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skin biopsy
4mm punch biopsy
skin biopsy
Interventions
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skin biopsy
Eligibility Criteria
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Inclusion Criteria
* 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 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
5 Years
ALL
No
Sponsors
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University Children's Hospital, Zurich
OTHER
Responsible Party
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Principal Investigators
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Lisa Weibel, MD
Role: PRINCIPAL_INVESTIGATOR
Department Pediatric Dermatology University Children's Hospital Zurich
Locations
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University Children's Hospital, Department of Pediatric Dermatology
Zurich, , Switzerland
University Hospital, Department of Dermatology
Zurich, , Switzerland
Countries
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Other Identifiers
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KISPI-UZH-LLS-2014
Identifier Type: -
Identifier Source: org_study_id