Detection of Recurrent Mutations in Waldenström's Disease

NCT03952052 | Completed

• 1 other identifier: CHB 18.06
• Study Type: interventional
• Target: 45
• Locations: 1 country
• Sites: 1

Brief Summary

Waldenström's disease (WM) is a rare, low-grade lymphoid hematopathy, accounting for 1 to 2% of malignant hematopathies and mainly affecting the elderly. This disease is characterized by lymphoplasmocyte cells infiltration into the bone marrow and by the production of a monoclonal IgM protein in the serum. This disease is accompanied by clinical manifestations of hepato-splenomegaly, signs of hyperviscosity, peripheral neuropathies and biological signs with the presence of cytopenias and cryoglobulinemia. Some forms present node or splenic involvement. While the asymptomatic form maintains overall survival close to that of the healthy subject, the symptomatic form is subject to frequent relapses and remains incurable. Current recommendations for the diagnosis and monitoring of this disease are based on protein electrophoresis from a blood sample to quantify monoclonal IgM production and a myelogram or bone marrow biopsy showing medullary infiltration by lymphoplasmocytic cells. However, protein electrophoresis is an imprecise examination since it does not quantify tumour B lymphocytes and has limitations, particularly in the case of poorly secreting forms. More than 90% of Waldenström cases have the L265P mutation of the MYD88 gene. Although this mutation is not found only in these diseases, it can help in the diagnosis. Other mutations are also present in this pathology. These mutations can define prognostic factors or possibly make it possible to identify therapeutic targets. The development of new technologies makes it possible, on the one hand, to follow the L265P mutation of MYD88 over time as a marker of response to treatment and, on the other hand, to define these prognostic markers or therapeutic targets. This study will first determine the best method for monitoring the mutation of MYD88. In a second step, the investigators will evaluate the best type of sampling and in particular whether this mutation is present in the blood in order to limit the invasive procedures such as bone marrow sampling can be limited. Finally, the investigators will evaluate the prognostic

Conditions

Waldenstrom's Disease

Keywords

MRD; Mutation; Next Generation sequencing; Digital Polymeras Chain Reaction

Outcome Measures

Primary Outcomes (1)

• Quantification of MYD88 L265P mutation

  Comparison of level of MYD88L265P mutationin different biological compartment c.

  one year

Secondary Outcomes (2)

• Allelic frequency of L265P mutation of MYD 88 gene

  one year

• Kinetics of mutation

  one year

Study Arms (1)

Patient enrolled

OTHER

Recurrent mutations determination

Other: Determination of mutation

Interventions

Determination of mutation OTHER

Recurrent mutation determination by digital PCR and next generation sequencing

Patient enrolled

Eligibility Criteria

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

You may qualify if:

• Over 18 years of age
• recently diagnosed for Waldenström's disease
• not yet treated for Waldenström's disease

You may not qualify if:

• Pregnancy or breast feeding
• HBV or HBC positive
• HIV positive

Sponsors & Collaborators

• Centre Henri Becquerel: lead

Study Sites (1)

Centre Henri Becquerel

Rouen, 76000, France

Location

Study Officials

• Pascaline Etancelin

  Centre Henri Becquerel

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 7, 2019
• First Posted: May 16, 2019
• Study Start: January 14, 2019
• Primary Completion: December 5, 2022
• Study Completion: December 5, 2022
• Last Updated: January 2, 2026

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)