Support our Foundation of Myology project
Flagship projects
A cohort and a biobank to better understand myositis
MASC2: clinical cohort and biobank for inflammatory myopathies
The MASC2 project is building and expanding a clinical cohort and a biobank dedicated to inflammatory myopathies, rare autoimmune diseases in which the immune system attacks the muscles. This resource combines detailed clinical data with biological samples from patients followed up at the Pitié-Salpêtrière.
Scientific challenge
Myositis covers several distinct diseases whose mechanisms and progression vary widely. Two patients with the same diagnosis may have very different symptoms, disease severity and response to treatment. Understanding this diversity and improving care calls for robust longitudinal data directly linked to clinical observations.
Key questions to unravel
The team is working to better distinguish the different subtypes of myositis, to identify the immune mechanisms responsible for muscle damage and to pinpoint biomarkers able to predict how the disease will progress or how patients will respond to treatment. The aim is to make more precise, more personalised medicine possible.
Scientific and methodological approach
Patients are followed up throughout their care pathway. At each stage, detailed clinical information is collected and biological samples are taken with their consent: muscle, serum, immune cells, DNAmacromolécule complexe, l’ADN est le support de l’hérédité (gènes). C’est le constituant des chromosomes. L’ADN est organisé en double hélice (deux brins complémentaires) et constitué de nucléotides de quatre types : adénine, guanine, cytosine et thymine., RNAmacromolécule constituée d’une seule chaîne de nucléotides (simple brin) résultant de la transcription (copie) de l’ADN.. These samples are stored in the MASC2 biobank, then analysed using technologies that make it possible to study the activity of genes, proteins and cells. The results are systematically compared with the clinical data in order to understand the mechanisms specific to each form of myositis.
Rare diseases are often models that help us better understand more general biological mechanisms. What we have learned from myositis has already found applications in other areas of medicine, in particular in understanding certain complications of the immunotherapies used against cancer and of the new gene therapies.
Olivier Benveniste, PU-PH (professor of medicine and hospital practitioner), head of the Internal Medicine and Clinical Immunology department at the Pitié-Salpêtrière, co-director of a team at the Center of Research in Myology, coordinator of the Neuromuscular Disease Reference Centre for inflammatory myopathies and of the national Myositis network
Expected impact on research and clinical practice
MASC2 provides an essential foundation for identifying new biomarkers, refining diagnosis, better predicting how the disease will progress and directing patients towards the most appropriate treatments. This resource has already improved the management of severe complications of anticancer immunotherapies, cutting their mortality from nearly 60% to less than 1%. It opens the way to advances that reach beyond myositis, shedding light on other situations in which the immune system disrupts muscle.