Neuromyelitis Optica Spectrum DisordersPoGeNCT06865274
Frequency of FCGR3A Gene Polymorphisms in Patients With Neuromyelitis Optica Spectrum Disorders, Anti-oligodendrocyte Myelin Protein Antibody Disease, and Multiple Sclerosis.
A study testing Blood draw for the laboratory assessment in people with Neuromyelitis Optica Spectrum Disorders and MOGAD, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial 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). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Neuromyelitis Optica Spectrum Disorders, MOGAD, Multiple Sclerosis
- What is being tested?
- Blood draw for the laboratory assessment
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 1 siteItaly
- Study dates
- 20 Feb 2025to 28 Feb 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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
Who may be able to join
- Adult patients diagnosed with MS, NMOSD, or MOGAD receiving care at participating centers
- Patients aged ≥ 18 years
- Ability to understand and sign informed consent
Who cannot join
- Individuals under 18 years of age
- Inability to provide informed consent
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Massimiliano Mirabella, Neurology Associate Professor contact
Italy1 site, 1 recruiting
- Recruiting
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Roma, Roma, 00168
Massimiliano Mirabella, 0630155390, massimiliano.mirabella@policlinicogemelli.it
Alessandra Cicia, Neurologist
About this study
Official title: Multicenter Prospective Interventional Study to Evaluate the Frequency of FCGR3A Gene Polymorphisms in Patients With Neuromyelitis Optica Spectrum Disorders, Myelin Oligodendrocyte Glycoprotein Antibody Disease, and Multiple Sclerosis.
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.
Read more
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.
Read the detailed description
FCG receptors (FCGR) are proteins expressed by various immune cells that bind to the Fc portion of immunoglobulin G (IgG). They play a key role in innate and adaptive immunity, regulating inflammatory responses and preventing autoimmunity. Genetic studies have shown that variations in FCGR genes can influence these functions, altering phagocytosis capacity and inflammatory response.
One particularly relevant polymorphism is SNP rs396991 in the FCGR3A gene, which encodes the receptor expressed on NK cells, monocytes, and macrophages. This SNP causes the substitution of the amino acid phenylalanine (F) with valine (V) at position 158, modifying the receptor's affinity for IgG. The 158V variant is associated with an enhanced inflammatory response, while 158F is linked to reduced immune complex clearance, contributing to the pathogenesis of autoimmune diseases such as lupus, rheumatoid arthritis, and sarcoidosis.
Neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) are two inflammatory disorders of the central nervous system, often severe and recurrent. NMOSD is characterized by autoantibodies against aquaporin-4 (AQP4), while MOGAD is associated with autoantibodies against MOG glycoprotein. There are currently no data on the frequency of the rs396991 polymorphism in the Italian population affected by these diseases.
The primary objective of this study is to assess the frequency of the FCGR3A-V158F genetic polymorphism in a cohort of Italian patients affected by NMOSD and MOGAD. A comparison group composed of patients diagnosed with Multiple Sclerosis (MS) will also be included.
The study will involve adult patients diagnosed with MS, NMOSD, or MOGAD, receiving care at various clinical centers in the Lazio region. Patients from the participating clinical centers will be selected, and their medical records, both paper-based and digital, will be reviewed to collect clinical and neuroimaging data. These data will be organized in an Excel database and will include information such as age, sex, ethnic background, body mass index, smoking status, presence of other autoimmune diseases, and non-neurological comorbidities. Additional recorded information will include diagnosis (NMOSD, MS, or MOGAD), age at disease onset, disease duration, antibody status (AQP4+/- and MOG+/-), previous disease-modifying therapies and their duration, as well as MRI data and Expanded Disability Status Scale (EDSS) scores.
For genetic analysis, each patient included in the study will undergo a blood draw of approximately 5 ml of peripheral venous blood (collected in EDTA) during routine blood tests. The sample will be used for DNA extraction, following the patient's signed informed consent. Genetic investigations will be conducted at the Genomic Medicine Section of the Department of Life Sciences and Public Health at Università Cattolica del Sacro Cuore in Rome. DNA samples will be stored anonymously for up to 10 years from the start of the project, with access restricted to authorized personnel. Patients or their families may request the destruction of their DNA at any time.
A total of 50 patients will be recruited, with a 12-month enrollment period and a total study duration of 24 months. The secondary objective is to identify potential differences in the clinical characteristics of NMOSD and MOGAD patients who express the polymorphism compared to those who do not.
Genetic analyses will be conducted at the Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore (Rome). The extracted DNA will be stored anonymously with an alphanumeric code for a maximum of 10 years from the start date of the project at the same institution. Only a limited number of authorized personnel will have access to the samples and data, subject to approval from the principal investigator (Prof. Massimiliano Mirabella). If requested by the patient or their family, the DNA can be destroyed at any time.
DNA extraction will be performed using the Wizard Genomic DNA Isolation Kit (Promega) and quantified via spectrophotometer (Thermo Fisher) and agarose gel electrophoresis. The detection of the rs396991 polymorphism in the FCGR3A gene in patients with NMOSD, MS, and MOGAD will be carried out using Sanger sequencing, employing primers described by Mahaweni et al. (14).
The presence of Copy Number Variable Regions (CNRs) in the FCGR3A gene will be assessed through MLPA (MRC Holland) and will be reserved only for patients who test negative for the rs396991 polymorphism using the Sanger method.
- Being tested
- Blood draw for the laboratory assessment
- Keywords
- NMOSD, MOGAD, MS, polymorphysm, FCG3A
- Medical subject headings
- Neuromyelitis Optica, Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease, Multiple Sclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood draw for the laboratory assessmentProcedure or surgery
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
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. Receives: Procedure: Blood draw for the laboratory assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline
Secondary outcomes (2)
Clinical characteristics of NMOSD and MOGAD patients who express the polymorphism
Disability assessed by Expanded disability status scale in NMOSD and MOGAD patients who express the polymorphism and in to those who do not.
Measured: From enrollment to 24 months
Clinical characteristics of NMOSD and MOGAD patients who express the polymorphism
Number of disease relapses in patients with NMOSD and MOGAD expressing the polymorphisms and in patients without the polymorphism
Measured: From enrollment to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Mar 2025
- Study start20 Feb 2025
- Primary completion28 Feb 2026 (estimated)
- Study completion28 Feb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (30)Papers the sponsor has linked to this study.
- Other trials for Neuromyelitis Optica Spectrum DisordersStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Mirabella Massimiliano, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06865274
- Sponsor's protocol ID
- 7168
- Acronym
- PoGe
- Status last verified
- Feb 2025
- First submitted
- 21 Feb 2025
- Last updated
- 7 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Goodin DS. The epidemiology of multiple sclerosis: insights to disease pathogenesis. Handb Clin Neurol. 2014;122:231-66. doi: 10.1016/B978-0-444-52001-2.00010-8.
PubMed 24507521Jakimovski D, Bittner S, Zivadinov R, Morrow SA, Benedict RH, Zipp F, Weinstock-Guttman B. Multiple sclerosis. Lancet. 2024 Jan 13;403(10422):183-202. doi: 10.1016/S0140-6736(23)01473-3. Epub 2023 Nov 7.
PubMed 37949093Banwell B, Bennett JL, Marignier R, Kim HJ, Brilot F, Flanagan EP, Ramanathan S, Waters P, Tenembaum S, Graves JS, Chitnis T, Brandt AU, Hemingway C, Neuteboom R, Pandit L, Reindl M, Saiz A, Sato DK, Rostasy K, Paul F, Pittock SJ, Fujihara K, Palace J. Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24.
PubMed 36706773Wingerchuk DM, Lucchinetti CF. Neuromyelitis Optica Spectrum Disorder. N Engl J Med. 2022 Aug 18;387(7):631-639. doi: 10.1056/NEJMra1904655. No abstract available.
PubMed 36070711Whittam DH, Tallantyre EC, Jolles S, Huda S, Moots RJ, Kim HJ, Robertson NP, Cree BAC, Jacob A. Rituximab in neurological disease: principles, evidence and practice. Pract Neurol. 2019 Feb;19(1):5-20. doi: 10.1136/practneurol-2018-001899. Epub 2018 Nov 29.
PubMed 30498056Manger K, Repp R, Jansen M, Geisselbrecht M, Wassmuth R, Westerdaal NA, Pfahlberg A, Manger B, Kalden JR, van de Winkel JG. Fcgamma receptor IIa, IIIa, and IIIb polymorphisms in German patients with systemic lupus erythematosus: association with clinical symptoms. Ann Rheum Dis. 2002 Sep;61(9):786-92. doi: 10.1136/ard.61.9.786.
PubMed 12176802Dijstelbloem HM, Scheepers RH, Oost WW, Stegeman CA, van der Pol WL, Sluiter WJ, Kallenberg CG, van de Winkel JG, Tervaert JW. Fcgamma receptor polymorphisms in Wegener's granulomatosis: risk factors for disease relapse. Arthritis Rheum. 1999 Sep;42(9):1823-7. doi: 10.1002/1529-0131(199909)42:93.0.CO;2-X.
PubMed 10513795Capiod T. Cell proliferation, calcium influx and calcium channels. Biochimie. 2011 Dec;93(12):2075-9. doi: 10.1016/j.biochi.2011.07.015. Epub 2011 Jul 23.
PubMed 21802482Iannuzzi MC, Iyengar SK, Gray-McGuire C, Elston RC, Baughman RP, Donohue JF, Hirst K, Judson MA, Kavuru MS, Maliarik MJ, Moller DR, Newman LS, Rabin DL, Rose CS, Rossman MD, Teirstein AS, Rybicki BA. Genome-wide search for sarcoidosis susceptibility genes in African Americans. Genes Immun. 2005 Sep;6(6):509-18. doi: 10.1038/sj.gene.6364235.
PubMed 15951742Chen JY, Wang CM, Tsao KC, Chow YH, Wu JM, Li CL, Ho HH, Wu YJ, Luo SF. Fcgamma receptor IIa, IIIa, and IIIb polymorphisms of systemic lupus erythematosus in Taiwan. Ann Rheum Dis. 2004 Jul;63(7):877-80. doi: 10.1136/ard.2003.005892.
PubMed 15194589Morgan AW, Griffiths B, Ponchel F, Montague BM, Ali M, Gardner PP, Gooi HC, Situnayake RD, Markham AF, Emery P, Isaacs JD. Fcgamma receptor type IIIA is associated with rheumatoid arthritis in two distinct ethnic groups. Arthritis Rheum. 2000 Oct;43(10):2328-34. doi: 10.1002/1529-0131(200010)43:103.0.CO;2-Z.
PubMed 11037893Typiak MJ, Rebala K, Dudziak M, Dubaniewicz A. Polymorphism of FCGR3A gene in sarcoidosis. Hum Immunol. 2014 Apr;75(4):283-8. doi: 10.1016/j.humimm.2014.02.011. Epub 2014 Feb 12.
PubMed 24530756Asano K, Matsumoto T, Umeno J, Hirano A, Esaki M, Hosono N, Matsui T, Kiyohara Y, Nakamura Y, Kubo M, Kitazono T. Impact of allele copy number of polymorphisms in FCGR3A and FCGR3B genes on susceptibility to ulcerative colitis. Inflamm Bowel Dis. 2013 Sep;19(10):2061-8. doi: 10.1097/MIB.0b013e318298118e.
PubMed 23917248Nieto A, Caliz R, Pascual M, Mataran L, Garcia S, Martin J. Involvement of Fcgamma receptor IIIA genotypes in susceptibility to rheumatoid arthritis. Arthritis Rheum. 2000 Apr;43(4):735-9. doi: 10.1002/1529-0131(200004)43:43.0.CO;2-Q.
PubMed 10765917Edberg JC, Langefeld CD, Wu J, Moser KL, Kaufman KM, Kelly J, Bansal V, Brown WM, Salmon JE, Rich SS, Harley JB, Kimberly RP. Genetic linkage and association of Fcgamma receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus. Arthritis Rheum. 2002 Aug;46(8):2132-40. doi: 10.1002/art.10438.
PubMed 12209518
Study at a glance
From the registry record, last updated by the sponsor on 7 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Multicenter Prospective Interventional Study to Evaluate the Frequency of FCGR3A Gene Polymorphisms in Patients With Neuromyelitis Optica Spectrum Disorders, Myelin Oligodendrocyte Glycoprotein Antibody Disease, and Multiple Sclerosis.
- ClinicalTrials.gov ID
- NCT06865274
- Acronym / sponsor ID
- PoGe / 7168
- Keywords
- NMOSD, MOGAD, MS, polymorphysm, FCG3A
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 20 Feb 2025 (actual)
- Primary completion
- 28 Feb 2026 (estimated)
- Study completion
- 28 Feb 2027 (estimated)
- First posted
- 7 Mar 2025 (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.
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.
Detailed description
FCG receptors (FCGR) are proteins expressed by various immune cells that bind to the Fc portion of immunoglobulin G (IgG). They play a key role in innate and adaptive immunity, regulating inflammatory responses and preventing autoimmunity. Genetic studies have shown that variations in FCGR genes can influence these functions, altering phagocytosis capacity and inflammatory response.
One particularly relevant polymorphism is SNP rs396991 in the FCGR3A gene, which encodes the receptor expressed on NK cells, monocytes, and macrophages. This SNP causes the substitution of the amino acid phenylalanine (F) with valine (V) at position 158, modifying the receptor's affinity for IgG. The 158V variant is associated with an enhanced inflammatory response, while 158F is linked to reduced immune complex clearance, contributing to the pathogenesis of autoimmune diseases such as lupus, rheumatoid arthritis, and sarcoidosis.
Neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) are two inflammatory disorders of the central nervous system, often severe and recurrent. NMOSD is characterized by autoantibodies against aquaporin-4 (AQP4), while MOGAD is associated with autoantibodies against MOG glycoprotein. There are currently no data on the frequency of the rs396991 polymorphism in the Italian population affected by these diseases.
The primary objective of this study is to assess the frequency of the FCGR3A-V158F genetic polymorphism in a cohort of Italian patients affected by NMOSD and MOGAD. A comparison group composed of patients diagnosed with Multiple Sclerosis (MS) will also be included.
The study will involve adult patients diagnosed with MS, NMOSD, or MOGAD, receiving care at various clinical centers in the Lazio region. Patients from the participating clinical centers will be selected, and their medical records, both paper-based and digital, will be reviewed to collect clinical and neuroimaging data. These data will be organized in an Excel database and will include information such as age, sex, ethnic background, body mass index, smoking status, presence of other autoimmune diseases, and non-neurological comorbidities. Additional recorded information will include diagnosis (NMOSD, MS, or MOGAD), age at disease onset, disease duration, antibody status (AQP4+/- and MOG+/-), previous disease-modifying therapies and their duration, as well as MRI data and Expanded Disability Status Scale (EDSS) scores.
For genetic analysis, each patient included in the study will undergo a blood draw of approximately 5 ml of peripheral venous blood (collected in EDTA) during routine blood tests. The sample will be used for DNA extraction, following the patient's signed informed consent. Genetic investigations will be conducted at the Genomic Medicine Section of the Department of Life Sciences and Public Health at Università Cattolica del Sacro Cuore in Rome. DNA samples will be stored anonymously for up to 10 years from the start of the project, with access restricted to authorized personnel. Patients or their families may request the destruction of their DNA at any time.
A total of 50 patients will be recruited, with a 12-month enrollment period and a total study duration of 24 months. The secondary objective is to identify potential differences in the clinical characteristics of NMOSD and MOGAD patients who express the polymorphism compared to those who do not.
Genetic analyses will be conducted at the Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore (Rome). The extracted DNA will be stored anonymously with an alphanumeric code for a maximum of 10 years from the start date of the project at the same institution. Only a limited number of authorized personnel will have access to the samples and data, subject to approval from the principal investigator (Prof. Massimiliano Mirabella). If requested by the patient or their family, the DNA can be destroyed at any time.
DNA extraction will be performed using the Wizard Genomic DNA Isolation Kit (Promega) and quantified via spectrophotometer (Thermo Fisher) and agarose gel electrophoresis. The detection of the rs396991 polymorphism in the FCGR3A gene in patients with NMOSD, MS, and MOGAD will be carried out using Sanger sequencing, employing primers described by Mahaweni et al. (14).
The presence of Copy Number Variable Regions (CNRs) in the FCGR3A gene will be assessed through MLPA (MRC Holland) and will be reserved only for patients who test negative for the rs396991 polymorphism using the Sanger method.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients diagnosied with neuromyelitis optica spectrum disorder and MOG antibodies associated diseas | Other | Procedure: Blood draw for the laboratory assessmentPatients 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. |
| Patients diagnosied with Multiple Sclerosis | Other | Procedure: Blood draw for the laboratory assessmentPatients 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Adult patients diagnosed with MS, NMOSD, or MOGAD receiving care at participating centers
- Patients aged ≥ 18 years
- Ability to understand and sign informed consent
Key exclusion criteria (2 listed)
- Individuals under 18 years of age
- Inability to provide informed consent
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 |
|---|---|---|
| Blood draw for the laboratory assessmentBlood 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 | Procedure or surgery | Patients diagnosied with Multiple Sclerosis, Patients diagnosied with neuromyelitis optica spectrum disorder and MOG antibodies associated diseas |
Primary outcome
FCGR3A gene polymorphism frequency in a cohort of Italian patients affected by NMOSD and MOGAD.
Time frame: Baseline
To assess the frequency of the FCGR3A gene polymorphism in a cohort of Italian patients affected by NMOSD and MOGAD.
2 secondary outcomes
Clinical characteristics of NMOSD and MOGAD patients who express the polymorphism
Time frame: From enrollment to 24 months
Clinical characteristics of NMOSD and MOGAD patients who express the polymorphism
Time frame: From enrollment to 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Mar 2025.
- Background: PubMed 24507521Goodin DS. The epidemiology of multiple sclerosis: insights to disease pathogenesis. Handb Clin Neurol. 2014;122:231-66. doi: 10.1016/B978-0-444-52001-2.00010-8.
- Background: PubMed 37949093Jakimovski D, Bittner S, Zivadinov R, Morrow SA, Benedict RH, Zipp F, Weinstock-Guttman B. Multiple sclerosis. Lancet. 2024 Jan 13;403(10422):183-202. doi: 10.1016/S0140-6736(23)01473-3. Epub 2023 Nov 7.
- Background: PubMed 36706773Banwell B, Bennett JL, Marignier R, Kim HJ, Brilot F, Flanagan EP, Ramanathan S, Waters P, Tenembaum S, Graves JS, Chitnis T, Brandt AU, Hemingway C, Neuteboom R, Pandit L, Reindl M, Saiz A, Sato DK, Rostasy K, Paul F, Pittock SJ, Fujihara K, Palace J. Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24.
- Background: PubMed 36070711Wingerchuk DM, Lucchinetti CF. Neuromyelitis Optica Spectrum Disorder. N Engl J Med. 2022 Aug 18;387(7):631-639. doi: 10.1056/NEJMra1904655. No abstract available.
- Background: PubMed 30498056Whittam DH, Tallantyre EC, Jolles S, Huda S, Moots RJ, Kim HJ, Robertson NP, Cree BAC, Jacob A. Rituximab in neurological disease: principles, evidence and practice. Pract Neurol. 2019 Feb;19(1):5-20. doi: 10.1136/practneurol-2018-001899. Epub 2018 Nov 29.
- Background: PubMed 12176802Manger K, Repp R, Jansen M, Geisselbrecht M, Wassmuth R, Westerdaal NA, Pfahlberg A, Manger B, Kalden JR, van de Winkel JG. Fcgamma receptor IIa, IIIa, and IIIb polymorphisms in German patients with systemic lupus erythematosus: association with clinical symptoms. Ann Rheum Dis. 2002 Sep;61(9):786-92. doi: 10.1136/ard.61.9.786.
- Background: PubMed 10513795Dijstelbloem HM, Scheepers RH, Oost WW, Stegeman CA, van der Pol WL, Sluiter WJ, Kallenberg CG, van de Winkel JG, Tervaert JW. Fcgamma receptor polymorphisms in Wegener's granulomatosis: risk factors for disease relapse. Arthritis Rheum. 1999 Sep;42(9):1823-7. doi: 10.1002/1529-0131(199909)42:93.0.CO;2-X.
- Background: PubMed 21802482Capiod T. Cell proliferation, calcium influx and calcium channels. Biochimie. 2011 Dec;93(12):2075-9. doi: 10.1016/j.biochi.2011.07.015. Epub 2011 Jul 23.
- Background: PubMed 15951742Iannuzzi MC, Iyengar SK, Gray-McGuire C, Elston RC, Baughman RP, Donohue JF, Hirst K, Judson MA, Kavuru MS, Maliarik MJ, Moller DR, Newman LS, Rabin DL, Rose CS, Rossman MD, Teirstein AS, Rybicki BA. Genome-wide search for sarcoidosis susceptibility genes in African Americans. Genes Immun. 2005 Sep;6(6):509-18. doi: 10.1038/sj.gene.6364235.
- Background: PubMed 15194589Chen JY, Wang CM, Tsao KC, Chow YH, Wu JM, Li CL, Ho HH, Wu YJ, Luo SF. Fcgamma receptor IIa, IIIa, and IIIb polymorphisms of systemic lupus erythematosus in Taiwan. Ann Rheum Dis. 2004 Jul;63(7):877-80. doi: 10.1136/ard.2003.005892.
- Background: PubMed 11037893Morgan AW, Griffiths B, Ponchel F, Montague BM, Ali M, Gardner PP, Gooi HC, Situnayake RD, Markham AF, Emery P, Isaacs JD. Fcgamma receptor type IIIA is associated with rheumatoid arthritis in two distinct ethnic groups. Arthritis Rheum. 2000 Oct;43(10):2328-34. doi: 10.1002/1529-0131(200010)43:103.0.CO;2-Z.
- Background: PubMed 24530756Typiak MJ, Rebala K, Dudziak M, Dubaniewicz A. Polymorphism of FCGR3A gene in sarcoidosis. Hum Immunol. 2014 Apr;75(4):283-8. doi: 10.1016/j.humimm.2014.02.011. Epub 2014 Feb 12.
- Individual participant dataSharing planned: No
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Efgartigimod for the Treatment of Acute Optic Neuritis
Optic Neuritis
Active, not recruitingObservational study
Biobank For MS And Other Demyelinating Diseases
Multiple Sclerosis, Transverse Myelitis
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.
Massimiliano Mirabella, Neurology Associate Professor contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood draw for the laboratory assessment in people with Neuromyelitis Optica Spectrum Disorders and MOGAD, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
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 2 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: looking for participants now, as of the sponsor's last update on 7 Mar 2025. 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 Italy. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Massimiliano Mirabella, Neurology Associate Professor (0630155390, massimiliano.mirabella@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
FCGR3A gene polymorphism frequency in a cohort of Italian patients affected by NMOSD and MOGAD. (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06865274, which also lists 30 linked publications.
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 7 Mar 2025.