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Characterisation of Clinical Phenotypes and Outcomes of Ma2 Patient

NCT ID: NCT05645185

Last Updated: 2022-12-09

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

43 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-10-01

Study Completion Date

2022-10-01

Brief Summary

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Paraneoplastic neurological syndromes (PNS) are rare complications of cancer occurring in 0.01% of cases. Their clinical, biological and radiological presentation is heterogeneous and may constitute a diagnostic challenge. Anti-Ma2 PNS are rare diseases with a guarded prognosis. They are most often associated with a seminoma-like testicular tumor but can also be associated with lung cancer. Classically, they present as limbic, diencephalic and/or brainstem encephalitis. Anti-Ma2 antibodies target intracellular receptors and are characteristic of a particular form of encephalitis. Atypical manifestations including narcolepsy-cataplexy, weight gain, sexual dysfunction and motor neuron syndrome have been described and explain the difficulty in diagnosing anti-Ma2 associated PNS. It seems interesting to better characterize the phenotypes of Ma2 patients in order to optimize the diagnosis and follow-up.

Detailed Description

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Conditions

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Autoimmune Encephalitis Paraneoplastic Syndromes

Keywords

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Neurological paraneoplastic syndrome auto immune encephalitis Ma2 antibody

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Patient with Ma2 antibody

This is a non-interventional study involving biological samples. Samples are already stored in biobank repositories and collected as part of "good clinical practice" in the diagnostic process of patients with suspected autoimmune encephalitis, meaning that the standard diagnostic and therapeutic approaches will not be altered in the selected study population. Patients have already gave explicit written consent for biological specimens sampling and storage at the "Centre de Ressources Biologiques des Hospices Civils de Lyon" (CRB-HCL) (including tissue, cells or biological fluids).

Diagnosis test

Intervention Type DIAGNOSTIC_TEST

Tests can be used: immunofluorescence, immunodot, western blot, tests CBA on sera or CSF.

Interventions

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Diagnosis test

Tests can be used: immunofluorescence, immunodot, western blot, tests CBA on sera or CSF.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* Neurological disorder
* Anti-Ma2 positivity in sera or CSF
* Patient \> 18 years old

Exclusion Criteria

* Patient without clinical data
* Patient without Ma2 antibody in sera or CSF
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Hospices Civils de Lyon

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites autoimmunes

Lyon, , France

Site Status

Countries

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France

Other Identifiers

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820

Identifier Type: -

Identifier Source: org_study_id