Characterisation of Clinical Phenotypes and Outcomes of Ma2 Patient (CarMa2)

Civil Hospices of Lyon

Status: Completed

Conditions: Paraneoplastic Syndromes; Autoimmune Encephalitis

Treatments: Diagnostic Test: Diagnosis test

Study type: Observational

Funder types: Other

Identifiers

NCT05645185

820

Details and patient eligibility

About

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.

Enrollment: 43 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

43 participants in 1 patient group

Patient with Ma2 antibody

Description:

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).

Treatment:

Diagnostic Test: Diagnosis test