Frequency of FCGR3A Gene Polymorphisms in Patients With Neuromyelitis Optica Spectrum Disorders, Anti-oligodendrocyte Myelin Protein Antibody Disease, and Multiple Sclerosis.

NCT06865274 | Recruiting

• 1 other identifier: 7168
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this study is to assess the frequency of genetic polymorphisms of the FCG3A in a cohort of Italian patients affected by neuromyelitis optica spectrum disorder (NMOSD) and mog antibody associated disease (MOGAD) and in a a comparison group of patients affected with Multiple Sclerosis (MS). The study will involve adult patients diagnosed with MS, NMOSD, or MOGAD, followed at various clinical centers in the Lazio region. Patients from the participating clinical centers will be selected, and their medical records will be analyzed to collect clinical and neuroimaging data. The data will include demographic information such as age, sex and body mass index and clinical information such as age at disease onset, disease duration, antibody status (AQP4+/- and MOG+/-), disease-modifying therapies, as well as MRI data and the Expanded Disability Status Scale (EDSS) score. Each patient included in the study will undergo a single blood draw of approximately 5 ml of peripheral venous blood during routine blood tests, which will be used for DNA extraction and polimorphysm analysis. Demographic and clinical differences between patients with NMOSD and MOGAD, with and without the polymorphism, will be assessed and compared with the group of patients with MS.

Conditions

Neuromyelitis Optica Spectrum Disorders; MOGAD; Multiple Sclerosis

Keywords

NMOSD; MOGAD; MS; polymorphysm; FCG3A

Outcome Measures

Primary Outcomes (1)

• FCGR3A gene polymorphism frequency in a cohort of Italian patients affected by NMOSD and MOGAD.

  To assess the frequency of the FCGR3A gene polymorphism in a cohort of Italian patients affected by NMOSD and MOGAD.

  Baseline

Secondary Outcomes (2)

• Clinical characteristics of NMOSD and MOGAD patients who express the polymorphism

  From enrollment to 24 months

• Clinical characteristics of NMOSD and MOGAD patients who express the polymorphism

  From enrollment to 24 months

Study Arms (2)

Patients diagnosied with neuromyelitis optica spectrum disorder and MOG antibodies associated diseas

OTHER

Patients will undergo a peripheral venous blood draw of approximately 5 ml (collected in EDTA) during routine blood tests for DNA extraction and genetic analysis, limited to the reserach of FCG3A polymorphisms. The results obtained will be compared with a control-group composed by patients diagnosed with Multiple sclerosis.

Procedure: Blood draw for the laboratory assessment

Patients diagnosied with Multiple Sclerosis

OTHER

Patients will undergo a peripheral venous blood draw of approximately 5 ml (collected in EDTA) during routine blood tests for DNA extraction and genetic analysis, limited to the reserach of FCG3A polymorphisms. This is a comparison group.

Procedure: Blood draw for the laboratory assessment

Interventions

Blood draw for the laboratory assessment PROCEDURE

Blood draw of approximately 5 ml of peripheral venous blood (collected in EDTA) will be collected for DNA extraction and genetic analysis limited to the research of FCG3A polymorphisms

Patients diagnosied with Multiple Sclerosis; Patients diagnosied with neuromyelitis optica spectrum disorder and MOG antibodies associated diseas

Eligibility Criteria

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

You may qualify if:

• Adult patients diagnosed with MS, NMOSD, or MOGAD receiving care at participating centers
• Patients aged ≥ 18 years
• Ability to understand and sign informed consent

You may not qualify if:

• Individuals under 18 years of age
• Inability to provide informed consent

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Roma, Roma, 00168, Italy

RECRUITING

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MeSH Terms

Conditions

Neuromyelitis Optica; Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease; Multiple Sclerosis

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Myelitis, Transverse; Demyelinating Autoimmune Diseases, CNS; Autoimmune Diseases of the Nervous System; Nervous System Diseases; Optic Neuritis; Optic Nerve Diseases; Cranial Nerve Diseases; Demyelinating Diseases; Eye Diseases; Autoimmune Diseases; Immune System Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Massimiliano Mirabella, Neurology Associate Professor

CONTACT

0630155390; massimiliano.mirabella@policlinicogemelli.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: February 21, 2025
• First Posted: March 7, 2025
• Study Start: February 20, 2025
• Primary Completion: February 28, 2026
• Study Completion (Estimated): February 28, 2027
• Last Updated: March 7, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)