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NCT03268161: GENOMAG

Prevalence of Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies

Completed Last updated 27 February 2018
What this trial tests

trial testing Mutational analysis of clonal B cells in Neuropathy Demyelinating in 26 participants. Completed in 10 November 2017.

Timeline
21 October 2015
Primary endpoint
10 November 2017
10 November 2017

Quick facts

Lead sponsorRennes University Hospital
StatusCompleted
Study typeOBSERVATIONAL
Enrollment26
Start date21 October 2015
Primary completion10 November 2017
Estimated completion10 November 2017
Sites1 location across France

Drugs / interventions tested

Conditions studied

Sponsor

Rennes University Hospital

Who can join

18 and older, any sex, with Neuropathy Demyelinating. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.

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