Genome-wide search for sarcoidosis susceptibility genes in African Americans.
M C Iannuzzi, S K Iyengar, C Gray-McGuire...
https://pubmed.ncbi.nlm.nih.gov/15951742/Actively Recruiting
Led by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Updated on 2025-03-07
50
Participants Needed
1
Research Sites
52 weeks
Total Duration
Researchers are studying the frequency of a specific genetic variation, the FCGR3A-V158F polymorphism, in adult Italian patients diagnosed with neuromyelitis optica spectrum disorder NMOSD, myelin oligodendrocyte glycoprotein antibody-associated disease MOGAD, and Multiple Sclerosis MS. The study aims to understand how this genetic variation may relate to these neurological conditions and compare clinical features among affected patients. The research involves patients followed at various clinical centers in the Lazio region. Participants will have a single peripheral venous blood draw of about 5 ml during routine blood tests. This blood will be used for DNA extraction and analysis of the FCGR3A gene polymorphisms. The study includes two groups patients with NMOSD or MOGAD, and a comparison group with MS. Genetic testing will be conducted at a specialized genomic medicine section, with DNA samples stored anonymously for up to 10 years. During the study, researchers will review medical records to collect demographics, clinical history, antibody status, therapies, MRI data, and disability scores. The main outcome is the frequency of the FCGR3A polymorphism at baseline. Secondary outcomes include any clinical differences between patients with or without the polymorphism over 24 months. Participation involves data collection, consent for genetic testing, and follow-up through medical record review. The total study duration is 24 months with a 12-month enrollment period.
CONDITIONS
Frequency of FCGR3A Gene Polymorphisms in Patients With Neuromyelitis Optica Spectrum Disorders, Anti-oligodendrocyte Myelin Protein Antibody Disease, and Multiple Sclerosis.
M
Massimiliano Mirabella, Neurology Associate Professor
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Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Lead Sponsor
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Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 12 months enrollment period
Participants undergo a blood draw of approximately 5 ml during routine blood tests for DNA extraction and genetic analysis limited to the research of FCGR3A polymorphisms.
1 visit (in-person)
Duration - Up to 24 months from enrollment
Participants' clinical characteristics are observed and compared over time to identify differences based on the presence of the FCGR3A polymorphism.
Follow-up visits during routine care as needed
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
DIAGNOSTIC
Number of Arms
2
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https://pubmed.ncbi.nlm.nih.gov/16170323/Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Lead Sponsor