Neuropathy DemyelinatingGENOMAGNCT03268161
Prevalence of Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies
An observational study of Neuropathy Demyelinating, run by Rennes University Hospital at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Neuropathy Demyelinating
- What is being tested?
- Mutational analysis of clonal B cells
- How many people
- 26 participants
- Where
- 1 siteFrance
- Study dates
- 21 Oct 2015to 10 Nov 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with anti-MAG neuropathy followed in the Internal Medicine Ward of the Rennes University Hospital
Who may be able to join
- Patients with anti-MAG neuropathy
- Blood and/or bone marrow samples available in bio-bank
- Given informed consent
Who cannot join
- Participation refusal
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read more
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.
Read the 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.
- Conditions
- Neuropathy Demyelinating
- Being tested
- Mutational analysis of clonal B cells
- Keywords
- anti-MAG neuropathy, Waldenström disease, Mutational analysis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Mutational analysis of clonal B cellsDiagnostic test
Mutational analysis based on medullary or blood samples stored in a bio-bank during routine lymphocyte phenotyping.
Mutations affecting MYD88 (MYD88 L265P mutation), CXCR4 (Whim-like CXCR4 mutation) loci are sought.
| Study group | Role | What they receive |
|---|---|---|
| Patients with anti-MAG neuropathy | Mutational analysis of clonal B cells Receives: Diagnostic Test: Mutational analysis of clonal B cells |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of MYD88 L265P mutations in anti-MAG neuropathies
Mutational status of MYD88 L265P is assessed using high-throughput sequencing (HTS) and allele specific polymerase chain reaction (AS-PCR)
Measured: At inclusion : after the patient's given consent
Prevalence of CXCR4 Whim-like mutations in anti-MAG neuropathies
Mutational status of CXCR4 is assessed using HTS and AS-PCR
Measured: At inclusion : after the patient's given consent
Secondary outcomes (1)
Immunoglobulin gene rearrangement
Immunoglobulin gene rearrangements are determined with a multiplex PCR
Measured: At inclusion : after the patient's given consent
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Aug 2017
- Study start21 Oct 2015
- Primary completion10 Nov 2017
- Study completion10 Nov 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neuropathy DemyelinatingStudies of the same condition, open and under way.
- More trials run by Rennes University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 26 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rennes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Olivier DECAUX, MD, PhD, Study director, Rennes University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03268161
- Sponsor's protocol ID
- 35RC15_3018
- Acronym
- GENOMAG
- Status last verified
- Feb 2018
- First submitted
- 29 Aug 2017
- Last updated
- 27 Feb 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Feb 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Study of the Prevalence of Some Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies.
- ClinicalTrials.gov ID
- NCT03268161
- Acronym / sponsor ID
- GENOMAG / 35RC15_3018
- Conditions
- Neuropathy Demyelinating
- Keywords
- anti-MAG neuropathy, Waldenström disease, Mutational analysis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 26 participants (actual)
- Lead sponsor
- Rennes University HospitalUniversity, hospital or other
- Study start
- 21 Oct 2015 (actual)
- Primary completion
- 10 Nov 2017 (actual)
- Study completion
- 10 Nov 2017 (actual)
- First posted
- 31 Aug 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with anti-MAG neuropathy | – | Diagnostic Test: Mutational analysis of clonal B cellsMutational analysis of clonal B cells |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with anti-MAG neuropathy followed in the Internal Medicine Ward of the Rennes University Hospital
Key inclusion criteria (3 listed)
- Patients with anti-MAG neuropathy
- Blood and/or bone marrow samples available in bio-bank
- Given informed consent
Key exclusion criteria (1 listed)
- Participation refusal
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Mutational analysis of clonal B cellsMutational analysis based on medullary or blood samples stored in a bio-bank during routine lymphocyte phenotyping. Mutations affecting MYD88 (MYD88 L265P mutation), CXCR4 (Whim-like CXCR4 mutation) loci are sought. | Diagnostic test | Patients with anti-MAG neuropathy |
Primary outcome
Prevalence of MYD88 L265P mutations in anti-MAG neuropathies
Time frame: At inclusion : after the patient's given consent
Mutational status of MYD88 L265P is assessed using high-throughput sequencing (HTS) and allele specific polymerase chain reaction (AS-PCR)
Prevalence of CXCR4 Whim-like mutations in anti-MAG neuropathies
Time frame: At inclusion : after the patient's given consent
Mutational status of CXCR4 is assessed using HTS and AS-PCR
1 secondary outcome
Immunoglobulin gene rearrangement
Time frame: At inclusion : after the patient's given consent
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Feb 2018.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Olivier DECAUX, MD, PhD study director
Rennes University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuropathy Demyelinating, run by Rennes University Hospital at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Feb 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of MYD88 L265P mutations in anti-MAG neuropathies (time frame: At inclusion : after the patient's given consent). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Feb 2018.