Descripción del proyecto
El papel de la detección sistemática y el tratamiento temprano de las neoplasias malignas de la médula ósea
El mieloma múltiple (MM), una forma rara de neoplasia maligna que representa el 1 % de todos los tipos de neoplasias malignas y el 2 % de todas las muertes por esta enfermedad, es difícil de diagnosticar e imposible de tratar. La gran mayoría de los casos de MM se diagnostican en la fase avanzada y, por lo tanto, no se benefician de los efectos del tratamiento temprano. En el proyecto Edit-SMM, financiado con fondos europeos, estudiarán a pacientes con MM para hacer nuevos descubrimientos sobre la biología y la evolución de esta neoplasia maligna de médula ósea. Aprovecharán el primer estudio que se realizó, en el que se examinaron muestras de sangre de 80 000 personas de más de 40 años, que se sometieron a exámenes para detectar los precursores de esta enfermedad. Los hallazgos esclarecerán el papel de la detección sistemática y el tratamiento temprano en el MM, y podrían permitir encontrar un tratamiento.
Objetivo
Multiple myeloma (MM) is a bone marrow malignancy that is always preceded by asymptomatic precursor conditions, monoclonal gammopathy of undetermined significance (MGUS) or smoldering MM (SMM). SMM is a more advanced precursor and is associated with a high risk of progression to MM. More than 94% of MM cases are diagnosed when already at the stage of full-blown malignancy and therefore do not benefit from the impact of early treatment.
Recent studies indicate a benefit of early treatment but all prior SMM studies are based on patients diagnosed due to other medical issues and are therefore biased. There are important and urgent questions on the role of screening and early treatment in SMM. There is also an unmet need to develop a risk score for progression that considers the biology and genetics of the disease.
In Edit-SMM we plan to build on the success from the Iceland Screens, Treats, or Prevents MM (iStopMM) study, where remarkably over 54% of the population (N=80,759) consented to a nationwide screening for MM precursors. It includes clinical evaluation and follow-up, biobanking, cross linking to central health data registries, repeated questionnaires on patient reported outcomes, groundbreaking methods of detection of SMM, and in-depth genetics.
Edit-SMM will identify all patients with SMM diagnosed in iStopMM. These will be followed and treated with the global objective of inducing a paradigm shift by improving diagnostics, disease classification, and population implementation of early intervention in MM by detecting and treating MM at a precursor state, hopefully leading to improved quality of life and potentially a cure. The main objectives are to gather knowledge on the epidemiological, clinical, and patient reported outcomes of SMM, perform a unique nationwide early treatment trial, and leverage this unparalleled collection of samples to make major new discoveries on the biology and evolution of SMM.
Ámbito científico
Palabras clave
Programa(s)
- HORIZON.1.1 - European Research Council (ERC) Main Programme
Régimen de financiación
HORIZON-ERC - HORIZON ERC GrantsInstitución de acogida
101 Reykjavik
Islandia