Clinical Database and Biobank of Patients With Inflammatory Myopathies: the MASC Project (Myositis, DNA, Serum, Cells) (MASC) (MASC)

• ClinicalTrials.gov Identifier: NCT04637672
• Recruitment Status: Recruiting
• First Posted: November 20, 2020
• Last Update Posted: September 18, 2023
• Sponsor: Groupe Hospitalier Pitie-Salpetriere
• Information provided by (Responsible Party): Joe Elie Salem, Groupe Hospitalier Pitie-Salpetriere

Study Description

Brief Summary:

Myositis are rare diseases for which the development of a cohort associated with a bank of biological samples (biobank) will allow for the conduct of researches to better delineate the underlying pathophysiology and find cures. This prospective cohort of patients with myositis will allow for identification of factors favouring the occurrence of myositis, whether they are constitutional (genetic) or acquired (environmental or drug). Different subgroups of myositis used for prognostication will be identified based on clinico-demographical variables, the nature of the organs involved beyond peripheral muscles (cardiac, diaphragm) and biomarkers abnormalities.

Condition or disease
Inflammatory Myositis; Idiopathic Inflammatory Myositis; Drug-induced Inflammatory Myositis

Detailed Description:

Myositis is a rare autoimmune disease in which the immune system mistakenly attacks the patient's own peripheral muscles. This aggression manifests by muscle inflammation and necrosis responsible for a motor deficit of varying severity.

The treatments available today are insufficient and are non-specific. Biological criteria, issued from simple blood or muscle tests are missing, and they will help to define the activity of the disease and the efficacy of treatments.

The MASC protocol will include patients with myositis, and investigators will collect clinical, radiological, electrophysiological, histological and biological data to be used for researches aiming at better understanding this entity. A biobank (muscle biopsy, DNA, serum, plasma, PBMCs) will be acquired on this prospective cohort.

The study itself will be composed of a baseline visit and monthly to yearly follow-up visits which will assess:

• Clinical examination with an evaluation of the muscle strength and function impairment/handicap, including but not limited to:

  • Manual testing of proximal axial and distal muscles on the five points Medical Research Council (MRC) scale
  • Barré tests and Mingazzini tests, number of stand-up / sitting, leg crossing
• Biometry, lab and radiological measurements: muscle enzymes (creatine phosphokinase CPK, troponin, C-reactive protein, quantification of autoantibodies, muscle MRI, muscle biopsy, thorax tomodensitometry, pulmonary test function
• Extra-muscular evaluation: cardiac examination and work-up (echocardiography, cardiac MRI and Positron Emission Tomography (PET) scanner, cardiac biopsies), pulmonary evaluation, rheumatological and dermatological assessment, history of thromboembolic disease and cancer

Patient activity assessment: evaluation of daily life activity by both patient and physician using a Visual Analogue Scale

• Quality of life questionnaires
• Evaluation of the efficacy and toxicity of specific treatments

For each patient, the date of last visit or contact will be collected as well as outcomes, particularly for the cause of death if relevant.

Data from the biobank MASC " Muscles DNA/RNA Serum and Cells " will be added to other data. The biobank has been fully registered with local authorities and ethical committees ("Committee for Personal Protection (CPP)" CPP agreement). It contains peripheral blood mononuclear cells (PBMC), serum, DNA and RNA from blood and muscular biopsies collected at the diagnosis stage. The database contains immunological and genetical data.

This prospective study will also aim at:

• Identify the differential pathophysiological processes between the different subgroups of myositis
• Identify prognostic factors, including the different treatment modalities used
• Improve physiopathological knowledge (clinico-anatomobiological characteristics and identification of other biomarkers through the biobank)
• Improve the evaluation of the clinical outcomes/endpoints for future trials
• Develop clinical trials for homogeneous subgroups of patients, based on their pathophysiology and evaluated on the appropriate endpoints.

Study Design

• Study Type: Observational [Patient Registry]
• Estimated Enrollment: 1660 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Target Follow-Up Duration: 100 Years
• Official Title: Clinical Database and Biobank of Patients With Inflammatory Myopathies: the MASC Project (Myositis, DNA, Serum, Cells) (MASC)
• Actual Study Start Date: December 19, 2013
• Estimated Primary Completion Date: September 14, 2024
• Estimated Study Completion Date: September 14, 2024

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. Characterisation of the different myositis subgroups based on clinical, radiological, electrophysiological and histo-biological evaluations [ Time Frame: baseline: first 30 days after inclusion ]
   Characterisation of the different myositis subgroups based on clinical, radiological, electrophysiological and histo-biological evaluations, including but not limited to: sexe, age, profession, a history of infection, cancer or other autoimmune and inflammatory diseases, diagnosis criteria, creatine phosphokinase, autoantibodies, immune systeme evaluation based on peripheral blood mononuclear cells, DNA sequencing muscular biopsies

Secondary Outcome Measures :

1. Characterisation of the natural history of myositis subgroups :responses to treatments, prognosis factors, evolution [ Time Frame: up to twenty years after inclusion ]
   Characterisation of the natural history of myositis subgroups :responses to treatments, prognosis factors, evolution
2. Characterisation of an immune system signature, using peripheral blood mononuclear cells and muscular biopsies, DNA and RNA sequencing, and autoantibodies [ Time Frame: baseline: first 30 days after inclusion ]
   Characterisation of an immune system signature, using peripheral blood mononuclear cells and muscular biopsies, DNA and RNA sequencing, and autoantibodies
3. Risk factors for All-cause mortality depending on patient's and disease characteristics [ Time Frame: up to twenty years after inclusion ]
   Risk factors for All-cause mortality depending on patient's and disease characteristics including clinical, radiological electrophysiological, histo-biological and immunological as well as treatment received stratified by each subgroup of myositis
4. Change of the quality of life, using quality of life questionnaires, depending of patients and disease characteristics [ Time Frame: up to twenty years after inclusion ]
   Change of the quality of life, using quality of life questionnaires, depending of patients and disease characteristics
5. Change of activity impairment using an evaluation of daily life activity by both patient and physician using a Visual Analogue Scale depending of patients and disease characteristics [ Time Frame: up to twenty years after inclusion ]
   Change of activity impairment using an evaluation of daily life activity by both patient and physician using a Visual Analogue Scale depending of patients and disease characteristics
6. Characterisation of a quality-of-life scale using biological data (CPK), muscle weakness (muscle testing) and other visceral involvements [ Time Frame: up to twenty years after inclusion ]
   Characterisation of a quality-of-life scale using biological data (CPK), muscle weakness (muscle testing) and other visceral involvements
7. Characterisation of a global activity scale using biological data (CPK), muscle weakness (muscle testing) and other visceral involvements [ Time Frame: up to twenty years after inclusion ]
   Characterisation of a global activity scale using biological data (CPK), muscle weakness (muscle testing) and other visceral involvements
8. Incidence of major cardio-vascular events [ Time Frame: up to twenty years after inclusion ]
   Incidence of major cardio-vascular events
9. Consequences on outcomes of major cardio-vascular events [ Time Frame: up to twenty years after inclusion ]
   Consequences on outcomes of major cardio-vascular events
10. Correlation of myositis with the development of extra-muscular diseases including but not limited to dermatological, rheumatological, cardiological and pneumological associated diseases [ Time Frame: up to twenty years after inclusion ]
    Correlation of myositis with the development of extra-muscular diseases including but not limited to dermatological, rheumatological, cardiological and pneumological associated diseases
11. Characterisation of respiratory function with pulmonary function test and thoracic tomodensitometry [ Time Frame: up to twenty years after inclusion ]
    Characterisation of respiratory function with pulmonary function test and thoracic tomodensitometry
12. Characterisation of diaphragmatic failure with pulmonary function test and thoracic tomodensitometry [ Time Frame: up to twenty years after inclusion ]
    Characterisation of diaphragmatic failure with pulmonary function test and thoracic tomodensitometry
13. Follow up of respiratory function with pulmonary function test and thoracic tomodensitometry [ Time Frame: up to twenty years after inclusion ]
    Follow up of respiratory function with pulmonary function test and thoracic tomodensitometry
14. Follow up of diaphragmatic failure with pulmonary function test and thoracic tomodensitometry [ Time Frame: up to twenty years after inclusion ]
    Follow up of diaphragmatic failure with pulmonary function test and thoracic tomodensitometry

Eligibility Criteria

• Ages Eligible for Study: 18 Years and older (Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

All patients who had a confirmed or suspected myositis

Criteria

Inclusion Criteria:

• All patients who had a confirmed (muscular biopsy, electromyogram, magnetic resonance imaging) or suspected clinically myositis. Myositis criteria are as follow:

  • Dermatomyositis or polymyositis according to Bohan and Peter criteria (1975)
  • Body inclusion myositis according to Griggs et al. criteria (1995)
  • Necrotizing autoimmune myopathy according to Hoogendijk et al. criteria (2004)
  • Drug-induced myositis
• Signature of the informed consent form for the study and for the biobank
• Age over 18 years old

Exclusion Criteria:

• None

Contacts and Locations

Contacts

Contact: Yves ALLENBACH, MD PhD; 142166647 ext +33; yves.allenbach@aphp.fr

Locations

France

AP-HP, Pitié-Salpêtrière Hospital, Department of Internal Medicine and clinical immunology; Recruiting

Paris, France, 75013

Contact: Olivier BENVENISTE, MD-PhD 142161088 ext +33 olivier.benveniste@aphp.fr

Sponsors and Collaborators

Groupe Hospitalier Pitie-Salpetriere

Investigators

• Study Director: Olivier Benveniste, PU PH; Groupe Hospitalier Pitie-Salpetriere
• Study Director: Yves Allenbach; Groupe Hospitalier Pitie-Salpetriere

More Information

• Responsible Party: Joe Elie Salem, MCU-PH, Groupe Hospitalier Pitie-Salpetriere
• ClinicalTrials.gov Identifier: NCT04637672
• Other Study ID Numbers: CIC-1421-20-04
• First Posted: November 20, 2020
• Last Update Posted: September 18, 2023
• Last Verified: September 2023

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:

Myositis; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases