Clinical trial NCT04637672: Clinical Database and Biobank of Patients With Inflammatory Myopathies: the MASC Project (Myositis, DNA, Serum, Cells) (MASC)
Official title: Clinical Database and Biobank of Patients With Inflammatory Myopathies: the MASC Project (Myositis, DNA, Serum, Cells) (MASC)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Inflammatory Myositis
Idiopathic Inflammatory Myositis
Drug-induced Inflammatory Myositis
Lead sponsor: Groupe Hospitalier Pitie-Salpetriere
Sponsor class: OTHER
First posted: 2020-11-20
Enrollment: 1273
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All patients who had a confirmed or suspected myositis

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.

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.

Eligibility 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

Primary outcomes:
measure: Characterisation of the different myositis subgroups based on clinical, radiological, electrophysiological and histo-biological evaluations
timeFrame: baseline: first 30 days after inclusion
Secondary outcomes:
measure: Characterisation of the natural history of myositis subgroups :responses to treatments, prognosis factors, evolution
timeFrame: up to twenty years after inclusion
measure: Characterisation of an immune system signature, using peripheral blood mononuclear cells and muscular biopsies, DNA and RNA sequencing, and autoantibodies
timeFrame: baseline: first 30 days after inclusion
measure: Risk factors for All-cause mortality depending on patient's and disease characteristics
timeFrame: up to twenty years after inclusion
measure: Change of the quality of life, using quality of life questionnaires, depending of patients and disease characteristics
timeFrame: up to twenty years after inclusion
measure: 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
timeFrame: up to twenty years after inclusion
measure: Characterisation of a quality-of-life scale using biological data (CPK), muscle weakness (muscle testing) and other visceral involvements
timeFrame: up to twenty years after inclusion
measure: Characterisation of a global activity scale using biological data (CPK), muscle weakness (muscle testing) and other visceral involvements
timeFrame: up to twenty years after inclusion
measure: Incidence of major cardio-vascular events
timeFrame: up to twenty years after inclusion
measure: Consequences on outcomes of major cardio-vascular events
timeFrame: up to twenty years after inclusion
measure: Correlation of myositis with the development of extra-muscular diseases including but not limited to dermatological, rheumatological, cardiological and pneumological associated diseases
timeFrame: up to twenty years after inclusion
measure: Characterisation of respiratory function with pulmonary function test and thoracic tomodensitometry
timeFrame: up to twenty years after inclusion
measure: Characterisation of diaphragmatic failure with pulmonary function test and thoracic tomodensitometry
timeFrame: up to twenty years after inclusion
measure: Follow up of respiratory function with pulmonary function test and thoracic tomodensitometry
timeFrame: up to twenty years after inclusion
measure: Follow up of diaphragmatic failure with pulmonary function test and thoracic tomodensitometry
timeFrame: up to twenty years after inclusion
Other outcomes:
Locations:
city: Paris
country: France
facility: AP-HP, Pitié-Salpêtrière Hospital, Department of Internal Medicine and clinical immunology
Study officials:
affiliation: Groupe Hospitalier Pitie-Salpetriere
name: Olivier Benveniste, PU PH
role: STUDY_DIRECTOR
affiliation: Groupe Hospitalier Pitie-Salpetriere
name: Yves Allenbach
role: STUDY_DIRECTOR
affiliation: Groupe Hospitalier Pitie-Salpetriere
name: Joe Elie SALEM
role: STUDY_DIRECTOR
References: