Ignite Creation Date:
2024-05-06 @ 10:28 AM
Last Modification Date:
2024-10-26 @ 12:30 PM
Study NCT ID:
NCT03268161
Status:
COMPLETED
Last Update Posted:
2018-02-27
First Post:
2017-08-29
Brief Title:
Prevalence of Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein MAG Antibodies
Sponsor:
Rennes University Hospital
Organization:
Rennes University Hospital
Study Overview
Official Title:
Observational Study of the Prevalence of Some Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein MAG Antibodies
Status:
COMPLETED
Status Verified Date:
2018-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
GENOMAG
Brief Summary:
Anti-MAG Myelin Associated Glycoprotein neuropathy is related to clonal B lymphocyte proliferation producing an monoclonal immunoglobulin IgM with anti-MAG activity IgM may be a reflection of malignant lymphoproliferative syndrome Waldenström disease or more often monoclonal gammopathy of unknown significance
The anti-MAG antibody has a direct toxicity on the myelin sheath of the peripheral nervous system responsible for a length-dependent demyelinating polyneuropathy Clinically this results in a sensitive ataxic predominant polyneuropathy in the lower limbs sometimes associated with a tremor of attitude and action tremor of the upper limbs
Clonal B cells at the origin of IgM production may have acquired mutations affecting MYD88 MYD88 L265P mutation and CXCR4 Whim-like CXCR4 mutation The prevalence of the MYD88 L265P mutation is estimated to be 50 in monoclonal gammopathies of undetermined significance and more than 80 in Waldenström disease CXCR4 Whim-like mutations are found in 40 of patients with Waldenströms disease
No studies have reported the prevalence of these mutations in patients with anti-MAG neuropathies
The anti-MAG antibody has a direct toxicity on the myelin sheath of the peripheral nervous system responsible for a length-dependent demyelinating polyneuropathy Clinically this results in a sensitive ataxic predominant polyneuropathy in the lower limbs sometimes associated with a tremor of attitude and action tremor of the upper limbs
Clonal B cells at the origin of IgM production may have acquired mutations affecting MYD88 MYD88 L265P mutation and CXCR4 Whim-like CXCR4 mutation The prevalence of the MYD88 L265P mutation is estimated to be 50 in monoclonal gammopathies of undetermined significance and more than 80 in Waldenström disease CXCR4 Whim-like mutations are found in 40 of patients with Waldenströms disease
No studies have reported the prevalence of these mutations in patients with anti-MAG neuropathies
Detailed Description:
This is a retrospective observational study in patients with anti-MAG neuropathy Mutational analysis will be performed for patients with a medullary or blood sample stored in a bio-bank during lymphocyte phenotyping This phenotyping was carried out most often in search of a malignant haemopathy associated with the monoclonal peak No new samples were taken from the patient blood or spinal cord
Immunoglobulin gene rearrangement of the clonal B cells are also assessed
Immunoglobulin gene rearrangement of the clonal B cells are also assessed
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None