Non-invasive Diagnostics and Monitoring of MRD and Clonal Evolution in Waldenström's Macroglobulinemia and in IgM-MGUS

NCT03521596 | Completed

• 1 other identifier: FIL_BIOWM
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 14

Brief Summary

Multicenter retrospective and prospective observational study including patients with WM or IgM-MGUS evaluated at the time of diagnosis and during the disease course using highly sensitive techniques.

Conditions

Waldenstrom Macroglobulinemia

Keywords

IgM monoclonal gammopathy; Waldenström's Macroglobulinemia; Minimal residual disease; Clonal evolution

Outcome Measures

Primary Outcomes (1)

• Rate of mutation

  To demonstrate that the rate of mutations of MYD88 (L265P) and/or CXCR4 (S338X) detected in peripheral blood and/or urine show a negligible difference with the rate of mutations detected in bone marrow samples (BM, gold standard)

  22 months

Study Arms (1)

Patient enrolled

Part of the patients will be retrospectively enrolled (learning sample) and part prospectively (validation sample)

Other: MRD and clonal evolution

Interventions

MRD and clonal evolution OTHER

Patient evaluation at the time of diagnosis and during the disease course using highly sensitive techniques

Patient enrolled

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The study population will include either IgM-MGUS, asymptomatic WM or symptomatic WM patients requiring treatment. Patients in need of therapy will be treated according to recently published guidelines \[49\]. Patients treated with new agents, including the BTK inhibitor Ibrutinib, will be included. Patient enrolled retrospectively will constitute the learning cohort of the study, while those enrolled prospectively will constitute the validation cohort).

You may qualify if:

• Diagnosis of IgM monoclonal gammopathy of undetermined significance (Ig-MGUS) or Waldenström's Macroglobulinemia (WM) according to criteria established at the second International Workshop on Waldenström's Macroglobulinemia \[1\]
• Age ≥ 18 years
• Previously untreated patients (only for the prospective cohort)
• Symptomatic or asymptomatic disease
• Subject understands and voluntarily signs an informed consent form approved by an Independent Ethics Committee (IEC)/Institutional Review Board (IRB)

You may not qualify if:

• Active HBV, HCV or HIV infection (antiHBc+ patients with undetectable HBV-DNA are eligible to the study)

Sponsors & Collaborators

• Fondazione Italiana Linfomi - ETS: lead

Study Sites (14)

Divisione di Ematologia Ospedale Niguarda

Milan, MI, Italy

Location

SOS Ematologia Ospedale C. Massaia

Asti, 14100, Italy

Location

IRCCS Istituto Tumori Giovanni Paolo II - UOC Ematologia

Bari, 70124, Italy

Location

AOU Università degli Studi della Campania Luigi Vanvitelli

Napoli, 80131, Italy

Location

I.R.C.C.S. Istituto Oncologico Veneto - Oncologia 1

Padua, 35128, Italy

Location

A.O. Universitaria Di Parma

Parma, 43126, Italy

Location

Ematologia Policlinico San Matteo

Pavia, 27100, Italy

Location

AO Arcispedale Santa Maria Nuova - IRCCS

Reggio Emilia, 42123, Italy

Location

Ospedale degli Infermi di Rimini

Rimini, 47924, Italy

Location

Policlinico A. Gemelli Università Cattolica del Sacro Cuore

Roma, 00168, Italy

Location

UOC Ematologia, AOU Senese

Siena, 53100, Italy

Location

A.O. Città della Salute e della Scienza Ematologia Universitaria

Torino, Italy

Location

Azienda Sanitaria Universitaria Integrata di Udine (A.S.U.I. Udine) - PO S. Maria della Misericordia

Udine, 33100, Italy

Location

Ematologia - OSPEDALE DI CIRCOLO E FONDAZIONE MACCHI

Varese, 21100, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood, Bone marrow and Urine collected at Baseline, Before treatment, after treatment, at 12 months follow up, at 24 months follow up and at 60 months follow up

MeSH Terms

Conditions

Waldenstrom Macroglobulinemia; Neoplasm, Residual

Interventions

Clonal Evolution

Condition Hierarchy (Ancestors)

Neoplasms, Plasma Cell; Neoplasms by Histologic Type; Neoplasms; Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Paraproteinemias; Blood Protein Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemorrhagic Disorders; Lymphoproliferative Disorders; Lymphatic Diseases; Immunoproliferative Disorders; Immune System Diseases; Neoplastic Processes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Cell Physiological Phenomena; Genetic Phenomena

Study Officials

• Marzia Varettoni

  Pavia - IRCCS Policlinico S. Matteo di Pavia - Div. di Ematologia

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 30, 2018
• First Posted: May 11, 2018
• Study Start: August 28, 2018
• Primary Completion: October 6, 2020
• Study Completion: October 2, 2025
• Last Updated: November 18, 2025

Record last verified: 2025-11

Locations

IT (14)