Search for Diagnostic and Prognostic Biomarkers in Systemic Sclerosis and Inflammatory Myopathies (SCLEROMYOMICS)
Search for Diagnostic and Prognostic Biomarkers (Molecular Signatures) in Systemic Sclerosis and Inflammatory Myopathies by a Multi-OMIC Strategy Integrating a Single Cell Analysis Approach
Descripción general del estudio
Estado
Condiciones
Intervención / Tratamiento
Descripción detallada
Cohort study, monocentric, comparative, non-randomized, open-label, prospective and longitudinal, quasi-experimental.
Participating subjects will be classified according to their clinical, biological and additional investigations into one of the 4 populations presented in the eligibility criteria.
A 1st sampling point will be carried out at inclusion visit (baseline). Prospective follow-up of participating patients will be carried out as part of their routine care (1 to 2 visits per year or more if disease complications appear).
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 disease.
During the follow-up, 2 more sampling points will be carried out (blood and / or skin) on each participating patient.
Blood samples and muscle biopsies will be carried out in the usual way during diagnostic and therapeutic management. An additional volume of blood, an additional muscle biopsy (on the occasion of the one performed for diagnosis) and two superficial skin biopsies (1 sclerotic tissue & 1 healthy tissue) will be taken for research purposes.
Inclusion in this cohort will not change the management of the patient, either with regard to his treatment or his follow-up.
Multi-omics analyzes will include single cell RNAseq, as well as proteomics and genomics analysis:
- Transcriptomic analysis will be performed on PMBC, muscle and skin.
- Genomic analysis (exome & whole genome) will be performed on PMBC, muscle and skin.
- Proteomic analysis will be performed on serum, PMBC, muscle and skin.
- Single cell analysis will be performed on PMBC, muscle and skin. During the analysis, the clinical characteristics of baseline, the treatments and the evolutions during the follow-up will be compared to reveal the clinical relevance of the multi-OMIC signatures.
Tipo de estudio
Inscripción (Anticipado)
Fase
- No aplica
Contactos y Ubicaciones
Estudio Contacto
- Nombre: Alain MEYER, MD
- Número de teléfono: + 33 3 88 12 79 55
- Correo electrónico: alain.meyer1@chru-strasbourg.fr
Ubicaciones de estudio
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Bas-Rhin
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Strasbourg, Bas-Rhin, Francia, 67000
- Reclutamiento
- University Hospital of Hautepierre
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Contacto:
- Alain MEYER, MD
- Número de teléfono: +33 03 88 12 79 55
- Correo electrónico: alain.meyer1@chru-strasbourg.fr
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Descripción
Inclusion Criteria:
- 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)
Exclusion Criteria:
Populations 1 & 2
- Contraindication to muscle biopsy
- Diagnosed for another neuromuscular disease
- Taking an immunosuppressant / immunomodulator treatment within 3 months before inclusion
- 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
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
- Propósito principal: Ciencia básica
- Asignación: N / A
- Modelo Intervencionista: Asignación de un solo grupo
- Enmascaramiento: Ninguno (etiqueta abierta)
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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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.
Periodo de tiempo: At Day 1
|
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
|
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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.
Periodo de tiempo: At 12 months
|
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.
Periodo de tiempo: 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.
Periodo de tiempo: At Day 1
|
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.
Periodo de tiempo: At 12 months
|
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.
Periodo de tiempo: 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.
Periodo de tiempo: Day 1
|
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
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Comparison of the molecular profiles between systemic sclerosis and inflammatory myopathies at one year and versus disease early stage.
Periodo de tiempo: At 12 months
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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
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|
Comparison of the molecular profiles between systemic sclerosis and inflammatory myopathies at 5 years and versus disease early stage.
Periodo de tiempo: At 5 years
|
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
|
Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Identification of molecular profiles specific to the evolution of clinical and biological characteristics of systemic sclerosis and inflammatory myopathies
Periodo de tiempo: 5 years
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Study of the molecular profile (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 a systemic or infectious complication (initial profile compared to the profile at the time of the complication)
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5 years
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Identification of molecular profiles specific to the impact of the implementation of targeted treatments in systemic sclerosis and inflammatory myopathies
Periodo de tiempo: 5 years
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Study of the molecular profile (i.e., genomic [New Generation Sequencing], transcriptomic [RNA chip], proteomic [mass spectrometry] and identification of cell population [single cell RNA sequencing]) of systemic sclerosis before and after the implementation of targeted treatments (immunomodulators, cell therapies).
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5 years
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Assessment of the presence of discriminating molecular profiles in different tissues (blood, skin, muscle) in systemic sclerosis and inflammatory myopathies
Periodo de tiempo: 5 years
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Compare the molecular profiles of blood (serum, PMBC), skin (sclerotic, healthy) and muscle, of early and advanced systemic sclerosis and inflammatory myopathies
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5 years
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Assessment of the presence of discriminating molecular profiles in different cell subpopulations within these tissues (blood, skin, muscle) in systemic sclerosis and inflammatory myopathies
Periodo de tiempo: 5 years
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Compare the molecular profiles in different cell subpopulations within blood, skin and muscle tissues by single cell analysis in systemic sclerosis and inflammatory myopathies
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5 years
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Colaboradores e Investigadores
Patrocinador
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Actual)
Finalización primaria (Anticipado)
Finalización del estudio (Anticipado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Palabras clave
Términos MeSH relevantes adicionales
Otros números de identificación del estudio
- 8181
Información sobre medicamentos y dispositivos, documentos del estudio
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Ensayos clínicos sobre Collection of biological samples
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