Dysglobulinemia
Conditions
Keywords
Dysglobulinemia, Multiple Myeloma, MGUS, Waldenström, genetic factors, Sequencing
Brief summary
Multiple Myeloma (MM) is a malignant proliferation of monoclonal plasma cells. Myeloma accounts for almost 14% of all hematologic cancers and is essentially incurable. Myeloma commonly evolves from a precursor disease, Monoclonal gammopathy of undetermined significance (MGUS). Despite intensive study, the etiology of MGUS and myeloma are unknown and no lifestyle or environmental exposure factors have been identified that are consistently linked to increased risk of MM, MGUS or the transition between the two. The overall goal is to identify risk genes for dysglobulinemia, and more specifically Multiple Myeloma. This will involve the conservation of cells in a bank and genetic sequencing on samples obtained from families with at least two cases of dysglobulinemia. Material used for sequencing is likely to include fresh peripheral blood cells or lymphoblastoid lines established from peripheral blood lymphocytes of patients.
Interventions
GENETICGenetic analysis of peripheral blood samples
M.D investigators report the identified families with all the information: description of the familial area (for example: 2 cases father and son), last medical report for the case with the type of dysglobulinemia, monoclonal component isotype, medical background and contact information for one of the patients or cases with Name/surname/Date of Birth/address and phone. They contact the patient to explain the study and establish the family pedigree. They collect the information on all the family members and send to the patient a mail: an information note on the study, a prescription for the blood sample and the informed consents. They proceed in the same way for the relatives with the additional prescription: EIP. They organize the logistic in the medical lab or hospital chosen by the person. They receive 4 Heparin and 1 serum tubes for each and with this, they obtain a large amount of biological material for the genetic analysis thanks to the establishment of lymphoblastoid cell lines
Sponsors
Hospices Civils de Lyon
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* 2 cases per family at least * 1 case alive at least * biological material available for 1 case at least * Patients give their informed consent * attached to the French Health protection service
Exclusion criteria
* Age under 18
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Data of a bank cells, clinically annotated, from families with at least 2 cases of dysglobulinemia and at least 1 case alive.plasma cell dysplasia | up to 48 months | The investigator collects blood samples from patients with dysglobulinemia and their relatives and with this, the investigators constitutes the bank cells thanks to the establishment of lymphoblastoid cell lines. The investigator considers as dysglobulinemia cases patients with Multiple Myeloma, MGUS, Waldenström's disease and MGUS (monoclonal gammopathy of unknown significance ) as wells as plasmacytomas confirmed histologically or cytologically. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Single Nucleotide Polymorphism array for identification of polymorphisms predictive of dysglobulinemia | at day 0 | The biological material, obtained from fresh peripheral blood cells and from Lymphoblastoid cells lines, is used for pangenic sequencing. It allows to better understand the mechanism of genetic variations who could be involve in the myeloma genesis |
Countries
France
Outcome results
None listed