Search for Diagnostic and Prognostic Biomarkers in Systemic Sclerosis and Inflammatory Myopathies

NCT04917705 | Recruiting

• 1 other identifier: 8181
• Study Type: interventional
• Target: 55
• Locations: 1 country
• Sites: 1

Brief Summary

Systemic sclerosis and inflammatory myopathies, which sometimes combine (scleromyositis), have shared pathophysiological elements. In both diseases, many cell subtypes are involved in damage to organs such as T lymphocytes, B lymphocytes, and unconventional (non-B, non-T) lymphocytes called innate lymphoid cell (ILC). The increasing complexity of our understanding of the immune system (multiplication of recognized cell subtypes) also makes the strategies for analyzing pathophysiological mechanisms more complex. Currently, no biomarker perfectly predicts the phenotype and evolution of patients. Multi-OMIC analyzes will be performed (identification of cell populations as well as genomic, transcriptomic and proteomic characterization) in blood and tissue samples (skin and muscle biopsy) in patients with systemic sclerosis and inflammatory myopathies, with the objective of identifying discriminating molecular signatures (biomarkers) according to the characteristics of the disease and its evolution.

Conditions

Systemic Sclerosis; Inflammatory Myopathies

Keywords

Scleroderma; Myopathy; Multi-OMICS; Biomarkers; Single-cell

Outcome Measures

Primary Outcomes (9)

• Evolution of the molecular profiles (i.e., genomic [New Generation Sequencing], transcriptomic [RNA chip], proteomic [mass spectrometry] and identification of cell population [single cell RNA sequencing]) of systemic sclerosis during 5 years.

  This study is descriptive (non-analytical), without prior hypothesis. Molecular profiles will be assessed by integration of multi-OMIC tools from a wide range of areas of biochemistry, chemistry, physics, computing science and molecular biology. During the 5-year follow-up, the investigating physician will remain attentive to the appearance of a new clinical element which will mark the course of the systemic sclerosis.

  At Day 1

• Evolution of the molecular profiles (i.e., genomic [New Generation Sequencing], transcriptomic [RNA chip], proteomic [mass spectrometry] and identification of cell population [single cell RNA sequencing]) of systemic sclerosis during 5 years.

  This study is descriptive (non-analytical), without prior hypothesis. Molecular profiles will be assessed by integration of multi-OMIC tools from a wide range of areas of biochemistry, chemistry, physics, computing science and molecular biology. During the 5-year follow-up, the investigating physician will remain attentive to the appearance of a new clinical element which will mark the course of the systemic sclerosis.

  At 12 months

• Evolution of the molecular profiles (i.e., genomic [New Generation Sequencing], transcriptomic [RNA chip], proteomic [mass spectrometry] and identification of cell population [single cell RNA sequencing]) of systemic sclerosis during 5 years.

  This study is descriptive (non-analytical), without prior hypothesis. Molecular profiles will be assessed by integration of multi-OMIC tools from a wide range of areas of biochemistry, chemistry, physics, computing science and molecular biology. During the 5-year follow-up, the investigating physician will remain attentive to the appearance of a new clinical element which will mark the course of the systemic sclerosis.

  5 years

• Evolution of the molecular profiles (i.e., genomic [New Generation Sequencing], transcriptomic [RNA chip], proteomic [mass spectrometry] and identification of cell population [single cell RNA sequencing]) of inflammatory myopathies during 5 years.

  This study is descriptive (non-analytical), without prior hypothesis. Molecular profiles will be assessed by integration of multi-OMIC tools from a wide range of areas of biochemistry, chemistry, physics, computing science and molecular biology. During the 5-year follow-up, the investigating physician will remain attentive to the appearance of a new clinical element which will mark the course of the inflammatory myopathies.

  At Day 1

• Evolution of the molecular profiles (i.e., genomic [New Generation Sequencing], transcriptomic [RNA chip], proteomic [mass spectrometry] and identification of cell population [single cell RNA sequencing]) of inflammatory myopathies during 5 years.

  This study is descriptive (non-analytical), without prior hypothesis. Molecular profiles will be assessed by integration of multi-OMIC tools from a wide range of areas of biochemistry, chemistry, physics, computing science and molecular biology. During the 5-year follow-up, the investigating physician will remain attentive to the appearance of a new clinical element which will mark the course of the inflammatory myopathies.

  At 12 months

• Evolution of the molecular profiles (i.e., genomic [New Generation Sequencing], transcriptomic [RNA chip], proteomic [mass spectrometry] and identification of cell population [single cell RNA sequencing]) of inflammatory myopathies during 5 years.

  This study is descriptive (non-analytical), without prior hypothesis. Molecular profiles will be assessed by integration of multi-OMIC tools from a wide range of areas of biochemistry, chemistry, physics, computing science and molecular biology. During the 5-year follow-up, the investigating physician will remain attentive to the appearance of a new clinical element which will mark the course of the inflammatory myopathies.

  5 years

• Comparison of the molecular profiles between systemic sclerosis and inflammatory myopathies at disease early stage.

  Comparison of the molecular profiles (i.e., genomic \[New Generation Sequencing\], transcriptomic \[RNA chip\], proteomic \[mass spectrometry\] and identification of cell population \[single cell RNA sequencing\] between systemic sclerosis and inflammatory myopathies at disease early stage.

  Day 1

• Comparison of the molecular profiles between systemic sclerosis and inflammatory myopathies at one year and versus disease early stage.

  Comparison of the molecular profiles (i.e., genomic \[New Generation Sequencing\], transcriptomic \[RNA chip\], proteomic \[mass spectrometry\] and identification of cell population \[single cell RNA sequencing\] between systemic sclerosis and inflammatory myopathies at one year and versus disease early stage.

  At 12 months

• Comparison of the molecular profiles between systemic sclerosis and inflammatory myopathies at 5 years and versus disease early stage.

  Comparison of the molecular profiles (i.e., genomic \[New Generation Sequencing\], transcriptomic \[RNA chip\], proteomic \[mass spectrometry\] and identification of cell population \[single cell RNA sequencing\] between systemic sclerosis and inflammatory myopathies at 5 years and versus disease early stage.

  At 5 years

Secondary Outcomes (4)

• Identification of molecular profiles specific to the evolution of clinical and biological characteristics of systemic sclerosis and inflammatory myopathies

  5 years

• Identification of molecular profiles specific to the impact of the implementation of targeted treatments in systemic sclerosis and inflammatory myopathies

  5 years

• Assessment of the presence of discriminating molecular profiles in different tissues (blood, skin, muscle) in systemic sclerosis and inflammatory myopathies

  5 years

• Assessment of the presence of discriminating molecular profiles in different cell subpopulations within these tissues (blood, skin, muscle) in systemic sclerosis and inflammatory myopathies

  5 years

Interventions

Collection of biological samples OTHER

Skin, muscle fiber and blood sampling

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Control population without inflammatory myopathy (population 1), suspected myopathy for whom a blood test and muscle biopsy are required to confirm the diagnosis
• Confirmed inflammatory myopathy (population 2)
• Control population without systemic sclerosis (population 3), with primary Raynaud's phenomenon
• Early diffuse systemic cutaneous scleroderma (population 4)
• Male or female (age ≥ 18, no upper age limit)

You may not qualify if:

• Populations 1 \& 2
• Contraindication to muscle biopsy
• Diagnosed for another neuromuscular disease
• Unbalanced cardiovascular pathology
• Population 3 \& 4
• Contraindication to skin biopsy
• Capillaroscopic and / or immunological anomaly suggesting scleroderma
• Suspicion of scleroderma but diagnosed for another connectivitis
• Immunosuppressive treatment (corticosteroids\> 15 mg, methotrexate, mycophenolate mofetil) introduced for more than 1 month
• Active or recent cancer \<3 years (apart from non-melanoma skin cancer).
• For all
• \- Pregnancy or breast feeding

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

University Hospital of Hautepierre

Strasbourg, Bas-Rhin, 67000, France

RECRUITING

MeSH Terms

Conditions

Scleroderma, Systemic; Myositis; Scleroderma, Diffuse; Muscular Diseases

Condition Hierarchy (Ancestors)

Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Central Study Contacts

Alain MEYER, MD

CONTACT

+ 33 3 88 12 79 55; alain.meyer1@chru-strasbourg.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 22, 2021
• First Posted: June 8, 2021
• Study Start: November 25, 2021
• Primary Completion: June 1, 2023
• Study Completion (Estimated): June 1, 2028
• Last Updated: December 15, 2021

Record last verified: 2021-12

Locations

FR (1)