MorpheaNCT02222038
Genetic Variants in Linear Localized Scleroderma
A study testing skin biopsy in people with Morphea, run by University Children's Hospital, Zurich at 2 sites in Switzerland.
Trial summary
The purpose of this study is to investigate the genetic architecture of Linear Localized Scleroderma (LLS) (linear morphea) by whole exome sequencing. Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- Morphea
- What is being tested?
- skin biopsy
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 2 sitesSwitzerland
- Study dates
- Aug 2014to 31 Oct 2017
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
2 sites in 1 country.
Switzerland2 sites
University Children's Hospital, Department of Pediatric Dermatology
Zurich, 8032
University Hospital, Department of Dermatology
Zurich, 8091
About this study
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
The purpose of this study is to investigate the genetic architecture of Linear Localized Scleroderma (LLS) (linear morphea) by whole exome sequencing.
Read the 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
- Being tested
- skin biopsy
- Medical subject headings
- Scleroderma, Localized
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
skin biopsyOther
| Study group | Role | What they receive |
|---|---|---|
| skin biopsy | Other | 4mm punch biopsy Receives: Other: skin biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
number of key genes /number of mutations in LLS (localized linear scleroderma)
Measured: 24-30 months
Secondary outcomes (1)
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.
Measured: 24-30 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Aug 2014 (estimated)
- Study startAug 2014
- Primary completionOct 2017
- Study completion31 Oct 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MorpheaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Children's Hospital, Zurich
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Lisa Weibel, MD, Principal investigator, Department Pediatric Dermatology University Children's Hospital Zurich
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02222038
- Sponsor's protocol ID
- KISPI-UZH-LLS-2014
- Status last verified
- Nov 2020
- First submitted
- 21 Jul 2014
- Last updated
- 10 Nov 2020
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Nov 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT02222038
- Acronym / sponsor ID
- KISPI-UZH-LLS-2014
- Conditions
- Morphea
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- University Children's Hospital, ZurichUniversity, hospital or other
- Study start
- Aug 2014
- Primary completion
- Oct 2017 (actual)
- Study completion
- 31 Oct 2017 (actual)
- First posted
- 21 Aug 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| skin biopsy | Other | Other: skin biopsy4mm punch biopsy |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| skin biopsy | Other | skin biopsy |
Primary outcome
number of key genes /number of mutations in LLS (localized linear scleroderma)
Time frame: 24-30 months
1 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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Nov 2020.
Related trials for Morphea
Active, not recruiting
Patient Reported Outcomes With UVA-1 Therapy for Treatment of Sclerosing Skin Diseases
Scleroderma, Systemic, Morphea
RecruitingObservational study
Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository
Scleroderma, Localized, Morphea
Enrolling by invitationObservational study
Elastography Ultrasound in Localized Scleroderma (Morphea) Study
Scleroderma
Recruiting
Investigating the Effectiveness of the Biopsychosocial Model-Based Exercise Approach in Children and Adults Diagnosed With Scleroderma
Scleroderma, Scleroderma, Localized
RecruitingObservational study
Patients Diagnosed With Scleroderma and Their Chewing and Swallowing Performance
Systemic Sclerosis (SSc), Scleroderma
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Lisa Weibel, MD principal investigator
Department Pediatric Dermatology University Children's Hospital Zurich
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing skin biopsy in people with Morphea, run by University Children's Hospital, Zurich at 2 sites in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Nov 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
number of key genes /number of mutations in LLS (localized linear scleroderma) (time frame: 24-30 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Nov 2020.