DERMATOMICS: Identifying Regulators of Skin Homeostasis
NCT ID: NCT06894654
Last Updated: 2025-07-28
Study Results
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Basic Information
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RECRUITING
500 participants
OBSERVATIONAL
2024-12-10
2030-11-01
Brief Summary
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The DERMATOMICS study will focus on understanding systemic sclerosis (SSc) biology.
Systemic Sclerosis (SSc) is a highly heterogeneous rare autoimmune fibrotic condition affecting the skin and internal organs. SSc is classified as a Connective Tissue Disease (CTD), a family of conditions including Systemic Lupus Erythematosus, Sjogren Syndrome and Inflammatory Myositis, all characterised by an autoimmune process affecting the connective tissue of most organs, communed by the presence of anti-nuclear antibodies (ANA). In SSc, patients are affected by a combination of tissue and vascular fibrosis, on the background of a chronic inflammatory process, leading to the highest per patient morbidity and mortality across CTDs. The main driver of mortality to date is interstitial lung disease (ILD), which is the consequence of the fibrotic involvement of the lungs, leading to a progressive loss of functional lung volumes, and ultimately, derangement of lung circulation, hypoxia, increased risk of hospitalisation for lower respiratory infections and death.
Current treatments for CTDs include general immunosuppressive treatments, not necessarily targeted to the specific mechanisms underlying their presentation, focusing on reducing inflammation and managing symptoms rather than addressing the underlying causes. Many of these therapies have limited effectiveness or are burdened with significant side effects. Therefore, there is a critical need to develop a comprehensive understanding of the cellular and molecular mechanisms underlying these disorders to identify novel therapeutic targets.
Several factors contribute to the risk and severity of SSc, including genetic predisposition, environmental triggers, immune system dysregulation, and lifestyle factors such as diet and smoking. The interactions between these factors are complex and not fully understood. By recruiting participants with SSc, we aim to obtain skin punch biopsies for detailed molecular and genetic analysis. To increase the informative value of our study we plan to implement an extreme phenotype approach and include participants with opposite degrees of severity.
Our study aims to elucidate the relationships between the molecular biology of skin cells, skin structure, genetic factors ("DNA"), and environmental influences. The goal is to identify and validate novel therapeutic targets that can lead to more effective and personalised treatment options for SSc, and more broadly for CTDs and CTD-associated skin and lung disease.
Modern single-cell technologies will be employed to dissect the cellular diversity within the skin. These advanced techniques have revolutionised our understanding of many tissues, but skin tissues remain underexplored, especially in the context of chronic skin diseases. Protocols for skin punch biopsy and single-cell profiling are well-established, allowing us to systematically analyse how genetic variations influence skin structure and function.
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Detailed Description
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Conditions
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Study Design
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CASE_ONLY
CROSS_SECTIONAL
Study Groups
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Early SSc cohort
Early diagnosis of systemic sclerosis (SSc)
Skin punch biopsy
Skin punch biopsies are 5mm for this study. Participants with SSc will undergo 4 biopsies (2 in diseased area, 2 in non-diseased area if available). Healthy Volunteers will undergo 2 biopsies.
blood sampling
10mls blood will be taken for analysis and DNA sequencing
Questionnaire
All participants are required to complete a questionnaire with information on demographics, lifestyle, medical and medication history.
Late SSc cohort
Late diagnosis of systemic sclerosis (SSc)
Skin punch biopsy
Skin punch biopsies are 5mm for this study. Participants with SSc will undergo 4 biopsies (2 in diseased area, 2 in non-diseased area if available). Healthy Volunteers will undergo 2 biopsies.
blood sampling
10mls blood will be taken for analysis and DNA sequencing
Questionnaire
All participants are required to complete a questionnaire with information on demographics, lifestyle, medical and medication history.
Healthy cohort (control)
Absence of SSc and Raynaud's Phenomenon (controls for the SSc cohorts)
Skin punch biopsy
Skin punch biopsies are 5mm for this study. Participants with SSc will undergo 4 biopsies (2 in diseased area, 2 in non-diseased area if available). Healthy Volunteers will undergo 2 biopsies.
blood sampling
10mls blood will be taken for analysis and DNA sequencing
Questionnaire
All participants are required to complete a questionnaire with information on demographics, lifestyle, medical and medication history.
Interventions
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Skin punch biopsy
Skin punch biopsies are 5mm for this study. Participants with SSc will undergo 4 biopsies (2 in diseased area, 2 in non-diseased area if available). Healthy Volunteers will undergo 2 biopsies.
blood sampling
10mls blood will be taken for analysis and DNA sequencing
Questionnaire
All participants are required to complete a questionnaire with information on demographics, lifestyle, medical and medication history.
Eligibility Criteria
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Inclusion Criteria
1. Age of 18 years inclusive, or older at the time of signing the informed consent
2. Documented diagnosis of systemic scleroderma (SSc) (early or late diagnosis)
Healthy cohort:
1. Approximate age/sex matching (majority of healthy participants to be recruited after cohort 1 and 2)
2. Absence of Raynaud's Phenomenon
3. Absence of lung disease
4. Not on immunosuppressive treatment
Exclusion Criteria
1. Participants unable to provide informed consent.
2. Participants with suspected/established underlying malignancy.
3. Participants with suspected/established skin cancer.
4. Participants with suspected/established bloodborne disease.
5. Current enrolment or past participation in a study involving an investigational drug within 3 months or 5 half-lives of the investigational drug treatment (whichever is longer) before the day of sample collection.
6. Participants treated with cellular therapies, e.g., HSCT, Car-T cells, T cell engagers.
7. Participants treated with B-cell depletion therapies within 6 months.
8. Concurrent diagnosis of any other connective tissue disease (CTD) in overlap.
9. Diagnosis of other non-SSc dermatological conditions.
10. Systemic sclerosis-like illness, including but not limited to localised scleroderma (morphoea), eosinophilic fasciitis, sclerodermoid graft-versus-host disease, fibro mucinous conditions (scleredema, scleromyxedema), scleroderma-like conditions that are associated with environmental chemical and drug exposure (e.g., toxic rapeseed oil, vinyl chloride, bleomycin, gadolinium-based contrast agents \[nephrogenic systemic fibrosis\], or due to metabolic disease).
11. History or presence of significant non-sclereoderma related cardiovascular, respiratory, hepatic, renal, gastrointestinal, endocrine, hematologic, neurological disorders, or treatments for those, capable of significantly interfering with the results and interpretation of data.
12. Smoking history (5 years smoke free acceptable)
18 Years
ALL
Yes
Sponsors
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Relation Therapeutics
INDUSTRY
Responsible Party
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Locations
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Chapel Allerton Hospital
Leeds, , United Kingdom
Royal Free Hospital
London, , United Kingdom
Countries
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Facility Contacts
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Other Identifiers
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RRx-Profiling-002
Identifier Type: -
Identifier Source: org_study_id
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