Personalized Medicine Program on Myelodysplastic Syndromes: Characterization of the Patient's Genome for Clinical Decision Making and Systematic Collection of Real World Data to Improve Quality of Health Care

Summary

BACKGROUND Myelodysplastic syndromes (MDS) typically occur in elderly people and with time, a portion of the patients evolve into acute myeloid leukemia (AML). Therefore a risk-adapted treatment strategy is mandatory. Current prognostic scores present limitations, and in most cases fail to capture reliable prognostic information at individual level.

STATE OF THE ART Important steps forward have been made in defining the molecular architecture of MDS and gene mutations have been reported to influence survival and risk of disease progression in MDS. Evaluation of the mutation status may add significant information to currently used prognostic scores and a comprehensive analyses of large, prospective patient populations is warranted to correctly estimate the independent effect of each mutation on clinical outcome and response to treatments.

AIMS In this project, the investigators will develop a research platform by integrating genomic mutations, clinical variables and patient outcome derived from real-world data obtained from FISiM (Fondazione Italiana Sindromi Mielodisplastiche) clinical network, including 72 hematological centers.

This will allow the investigators to:

1. define the clinical utility of mutational screening in the diagnostic work-up and classification of MDS
2. assess the implementation of diagnostic and therapeutic guidelines (appropriateness) in the real-life
3. evaluate the impact of specific interventions (treatments) on clinical outcomes, long-term complications and costs
4. identify predictors of response to specific treatments, and develop precision medicine programs in hematology based on Real World Evidence RWD
5. measure patient-reported outcomes (PRO) and quality of life (QoL) in a real world MDS setting

Conditions

• MDS (Myelodysplastic Syndrome)

Sponsors & Collaborators

• Fondazione Italiana Sindromi Mielodisplastiche-ETS

  lead OTHER

Principal Investigators

• Matteo Della Porta, MD · Humanitas Hospital, Italy

• Valeria Santini, MD · AOU Careggi-Università di Firenze

• Emanuele Angelucci, MD · AOU San Martino IST - Genova

• Enrico Balleari, MD · AOU San Martino IST - Genova

• Elena Crisà, MD · l'AOU Maggiore della Carità di Novara

• Pellgrino Musto, MD · IRCCS Centro di Riferimento Oncologico della Basilicata Rionero in Vulture PZ

• Antonella Poloni, MD · Ospedali Riuniti - Università Politecnica delle Marche Ancona

• Renato Zambello, MD · U.O. Ematologia, Azienda Ospedale - Università di Padova

• Lorenza Borin, MD · ASST San Gerardo, Monza

• Gastone Castellani, Physics · University of Bologna

• Pasquale Niscola, MD · Ospedale S.Eugenio-CTO (ASL Roma 2), Roma

• Esther Oliva, MD · Ospedale Metropolitano Bianchi Melacrino Morelli di Reggio Calabria

• Paolo Giorgio Sergio Pasini, Presidente AIPaSiM · AIPaSiM, Associazione Italiana Pazienti con Sindrome Mielodisplastica

• Francesco Passamonti, MD · ASST Sette Laghi, Varese

• Federica Pilo, MD · Azienda Ospedaliera Brotzu, Cagliari

Eligibility

Min Age

18 Years

Max Age

100 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2020-06-03

Primary Completion

2024-07-18

Completion

2024-07-18

Countries

• Italy

Study Locations