INTEGRATING ULTRASOUND-SUPPORTED PHENOTYPING WITH COMT RS4680 AND IL6 RS1800795 GENOTYPE-PHENOTYPE ASSOCIATIONS İN FIBROMYALGIA AND MYOFASCIAL PAIN SYNDROME
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- COMT rs4680
研究概览
简要总结
Fibromyalgia (FM) and myofascial pain syndrome (MPS) are chronic pain conditions that may share some clinical features but differ in the distribution and extent of pain and associated symptoms. The biological factors contributing to these differences remain incompletely understood.
This observational study aims to compare the distribution of two pain-related genetic variants, COMT rs4680 and IL6 rs1800795, between individuals with FM and MPS and to investigate their associations with clinical characteristics. Participants will undergo standardized clinical assessment, including measures of symptom burden, physical functioning, and energy/fatigue. In participants with MPS, musculoskeletal ultrasonography will be used as an adjunct to clinical examination to support phenotypic characterization.
Genetic analysis will be performed using DNA obtained from peripheral venous blood. COMT rs4680 and IL6 rs1800795 will be genotyped using a TaqMan probe-based real-time polymerase chain reaction method.
The study is intended to explore genotype-phenotype associations in two clinically characterized chronic pain conditions. The investigated genetic variants are not being evaluated as diagnostic tests, and no intervention is assigned as part of the study.
详细描述
This comparative observational study will include 50 participants, comprising 25 individuals with fibromyalgia (FM) and 25 individuals with myofascial pain syndrome (MPS).
FM will be diagnosed according to the 2016 revised American College of Rheumatology diagnostic criteria. MPS classification will be based on a standardized sequential assessment consisting of clinical examination followed by musculoskeletal ultrasonography. Clinical examination will be performed to identify the symptomatic muscle, palpable taut band, and clinically relevant myofascial trigger point. Ultrasonography will subsequently be performed in all participants classified as having MPS and will be used as an adjunct to clinical examination rather than as a standalone diagnostic test.
Clinical assessment will include the Revised Fibromyalgia Impact Questionnaire (FIQR), Symptom Severity Scale (SSS), and the Physical Functioning and Energy/Fatigue domains of the 36-Item Short Form Health Survey (SF-36).
Peripheral venous blood samples will be obtained for DNA extraction. COMT rs4680 and IL6 rs1800795 polymorphisms will be genotyped using TaqMan probe-based real-time PCR. Genotype distributions will be compared between FM and MPS, and associations between genotype categories and clinical measures will be explored.
The study is designed as a hypothesis-driven candidate-gene association study and does not aim to establish either polymorphism as a diagnostic genetic marker.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adults diagnosed with fibromyalgia (FM) according to the 2016 revised American College of Rheumatology (ACR) diagnostic criteria; or
- •Adults diagnosed with myofascial pain syndrome (MPS) based on standardized clinical examination, including identification of a symptomatic muscle, palpable taut band, and clinically relevant myofascial trigger point. Musculoskeletal ultrasonography was additionally performed in all participants with MPS as a supportive phenotyping method.
- •Ability to understand and complete the clinical assessment questionnaires.
- •Provision of written informed consent for participation and genetic analysis.
排除标准
- •Presence of both fibromyalgia and myofascial pain syndrome or fulfillment of the 2016 revised ACR criteria for fibromyalgia in participants considered for the MPS group.
- •Presence of another medical, neurological, rheumatological, or musculoskeletal condition that could substantially interfere with pain assessment or clinical phenotyping.
- •Inability to complete the study assessments.
- •Insufficient or unsuitable blood sample for genetic analysis.
研究组 & 干预措施
Fibromyalgia
Participants diagnosed with fibromyalgia according to the 2016 revised American College of Rheumatology diagnostic criteria. Participants will undergo clinical assessment and genotyping of COMT rs4680 and IL6 rs1800795.
Myofascial Pain Syndrome
Participants with myofascial pain syndrome identified through standardized clinical examination. Musculoskeletal ultrasonography will be performed in all participants in this group as an adjunct to clinical examination to support phenotypic characterization. Participants will undergo the same clinical assessment and genotyping of COMT rs4680 and IL6 rs1800795.
结局指标
主要结局
COMT rs4680
时间窗: At study enrollment/baseline assessment
Genotype frequencies of COMT rs4680 (AA, AG, and GG) will be determined by TaqMan probe-based real-time PCR and compared between participants with fibromyalgia and myofascial pain syndrome.
IL6 rs1800795 Genotype Distributions
时间窗: At study enrollment/baseline assessment
Genotype frequencies of IL6 rs1800795 (CC, CG, and GG) will be determined by TaqMan probe-based real-time PCR and compared between participants with fibromyalgia and myofascial pain syndrome.
次要结局
- FIQR Score(At baseline assessment)
- Symptom Severity Scale Score(At baseline assessment)
- SF-36 Physical Functioning Score(At baseline assessment)
- SF-36 Energy/Fatigue Score(At baseline assessment)
研究者
Gökhan ÖZKOÇAK
Gökhan Özkoçak, Asst. Prof. M.D.
Istanbul Aydın University