Neuropathy Demyelinating Clinical Trial
Official title:
Observational Study of the Prevalence of Some Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies.
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 Waldenström's disease.
No studies have reported the prevalence of these mutations in patients with anti-MAG
neuropathies.
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.
;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT04154540 -
Posturography-Neuropathy
|
N/A |