Characterisation of Clinical Phenotypes and Outcomes of Ma2 Patient

NCT05645185 | Completed

• 1 other identifier: 820
• Study Type: observational
• Target: 43
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Autoimmune Encephalitis; Paraneoplastic Syndromes

Keywords

Neurological paraneoplastic syndrome; auto immune encephalitis; Ma2 antibody

Outcome Measures

Primary Outcomes (1)

• Rankin score

  Follow up and survival (rankin score)

  12 month after diagnosis

Study Arms (1)

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).

Diagnostic Test: Diagnosis test

Interventions

Diagnosis test DIAGNOSTIC_TEST

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

Patient with Ma2 antibody

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with anti-Ma2 paraneoplastic neurological syndromes with or without cancer

You may qualify if:

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

You may not qualify if:

• Patient without clinical data
• Patient without Ma2 antibody in sera or CSF

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites autoimmunes

Lyon, 69677, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Sera, blood, DNA, CSF collected at diagnosis time

MeSH Terms

Conditions

Autoimmune Diseases of the Nervous System; Paraneoplastic Syndromes

Interventions

Immunologic Tests

Condition Hierarchy (Ancestors)

Nervous System Diseases; Autoimmune Diseases; Immune System Diseases; Neoplasms

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Immunologic Techniques

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 1, 2022
• First Posted: December 9, 2022
• Study Start: October 1, 2021
• Primary Completion: March 1, 2022
• Study Completion: October 1, 2022
• Last Updated: December 9, 2022

Record last verified: 2022-12

Locations

FR (1)