Engagement Study for Participants With Factor V Leiden and Prothrombin G20210A Mutations
Engagement Study to Establish a Clinical Baseline for Adult Participants With Factor V Leiden or Prothrombin G20210A Mutation and Familiarise Them With the Clinical Trials Unit Environment for Future Clinical Trial Participation.
This study will enrol individuals who have, or may have, Factor V Leiden or Prothrombin G20210A mutations, which are genetic changes linked to an increased risk of blood clots. Targeted genetic testing will be carried out, where appropriate, to confirm whether participants have one of these genetic variants. Those with a confirmed result will attend a site visit for basic health checks, including blood pressure measurements, ECG, and blood tests, to establish a baseline of their general health and help identify suitability for future related clinical trials.
The study also provides participants with the opportunity to learn more about clinical research and become familiar with the clinical trial unit and team. Participation lasts approximately 10 weeks and includes 1-2 site visits and a follow-up telephone call.
研究概览
地位
详细说明
This study aims to engage people who have, or may have, Factor V Leiden or Prothrombin G20210A mutations, which are genetic changes that can increase the risk of blood clots such as stroke. The study will collect health information to establish a clinical baseline for each participant. This can later help identify which participants are more likely to be included in Factor V Leiden or Prothrombin G20210A-related clinical trials.
The study also helps participants understand what taking part in a clinical trial involves. It gives them the chance to visit the clinical trials unit and become familiar with the clinical team before deciding whether they would like to join future studies related to these conditions.
Targeted genetic testing will be used to confirm whether participants have Factor V Leiden or Prothrombin G20210A mutations. This is particularly helpful for people from groups where these genetic changes are suspected and may allow some participants to receive a formal diagnosis.
The study will take approximately 10 weeks for participants to complete, consisting of 1 to 2 visits and a follow-up telephone call. Participants will first attend a screening visit, where the study will be explained and written consent will be taken. Following the informed consent, a genetic test will be performed for participants who are suspected of having Factor V Leiden or Prothrombin G20210A mutations.
Participants with confirmed diagnosis will be invited to a Day 1 visit. At this visit, participants will undergo a series of basic clinical assessments, such as blood pressure, heart recordings (ECGs), and blood tests. These assessments will help to establish a clinical baseline of the participant's health. Participants will receive a guided tour of the clinical trial unit to become familiar with its setting and environment.
Participants may also be provided with a hard copy of a Participant Information Sheet/Informed Consent Form (PIS/ICF) of any future relevant clinical trial (provided this document has received approval from the REC). This will allow potential participants to take the information home for a thorough review and discussion with friends and family before potentially attending a screening appointment for any future trials. A follow-up telephone call with the Study Doctor will be conducted within 1 week after Day 1 to discuss the results of the clinical assessments, allow participants to ask any questions and arrange specialist referrals or follow-up from their GP if required to support the participant's ongoing care
研究类型
注册 (估计的)
联系人和位置
学习联系方式
- 姓名:James Rickard, MPharm
- 电话号码:+44 (0) 20 7042 5800
- 邮箱:jrickard@richmondresearchinstitute.org
学习地点
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London、英国、SE1 1YR
- 招聘中
- Richmond Pharmacology Limited
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接触:
- Khaled Abouollo, MSc
- 电话号码:+44 (0) 20 7042 5800
- 邮箱:k.abouollo@richmondpharmacology.com
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首席研究员:
- Edward Jackson, MBChB PhD
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参与标准
资格标准
适合学习的年龄
- 成人
- 年长者
接受健康志愿者
取样方法
研究人群
描述
Inclusion Criteria:
- Male or female participants aged ≥ 18 years at the date of signing the Participant Information Sheet/Informed Consent Form (PIS/ICF).
- Ability to provide written, personally signed, and dated informed consent in accordance with International Council for Harmonisation (ICH) Good Clinical Practice (GCP) Guidelines E6 (R3) (2025) and applicable regulations, before any study-specific procedures are performed.
- Confirmed or suspected diagnosis of FVL or Prothrombin G20210A mutation via targeted genetic testing.
Exclusion Criteria:
- Unwilling or unable to comply with the protocol-defined study assessments.
- Any other significant disease or disorder that, in the opinion of the Principal Investigator (PI) or Sponsor, may either place the participant at risk from participation, or influence the clinical baseline.
学习计划
研究是如何设计的?
设计细节
研究衡量的是什么?
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Willingness to be re-contacted for future clinical trials and Feedback Questionnaire.
大体时间:Until the end of the study (up to 15 weeks)
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Study duration: Up to 15 weeks
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Until the end of the study (up to 15 weeks)
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次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Genotype and zygosity status
大体时间:Screening
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Proportion of participants with confirmed Factor V Leiden or Prothrombin G20210A mutation, including zygosity (heterozygous or homozygous), based on targeted genetic testing.
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Screening
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Prior venous thromboembolism (VTE) phenotype
大体时间:Day 1
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Descriptive summary of participant history of venous thromboembolism, including type (e.g., deep vein thrombosis, pulmonary embolism), age at first event, and provoking factors, collected via medical history.
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Day 1
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Anticoagulation status
大体时间:Day 1
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Current and prior use of anticoagulant therapy, including type and indication, as recorded in medical history and concomitant medications.
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Day 1
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Haematology parameters
大体时间:Day 1
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Descriptive summary of haematology parameters obtained from blood samples as specified in the protocol
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Day 1
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Clinical chemistry (biochemistry) parameters
大体时间:Day 1
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Descriptive summary of clinical chemistry parameters obtained from blood samples as specified in the protocol.
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Day 1
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Coagulation parameters
大体时间:Day 1
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Descriptive summary of coagulation parameters obtained from blood samples as specified in the protocol.
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Day 1
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Respiratory rate
大体时间:Day 1
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Measurement of respiratory rate obtained after rest in the supine position.
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Day 1
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Body temperature
大体时间:Day 1
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Measurement of body temperature obtained after rest in the supine position.
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Day 1
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Heart rate
大体时间:Day 1
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Measurement of heart rate obtained after rest in the supine position
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Day 1
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Blood pressure
大体时间:Day 1
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Measurement of systolic and diastolic blood pressure obtained after rest in the supine position
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Day 1
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Electrocardiogram (ECG) parameters
大体时间:Day 1
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12-lead electrocardiogram measurements performed in triplicate after rest, including heart rate and standard interval measurements (e.g., PR, QRS, QT/QTc intervals).
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Day 1
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合作者和调查者
出版物和有用的链接
一般刊物
- Luxembourg B, Henke F, Kirsch-Altena A, Sachs U, Kemkes-Matthes B. Impact of double heterozygosity for Factor V Leiden and Prothrombin G20210A on the thrombotic phenotype. Thromb Res. 2021 Apr;200:121-127. doi: 10.1016/j.thromres.2021.01.022. Epub 2021 Feb 2.
- Bank I, Scavenius MP, Buller HR, Middeldorp S. Social aspects of genetic testing for factor V Leiden mutation in healthy individuals and their importance for daily practice. Thromb Res. 2004;113(1):7-12. doi: 10.1016/j.thromres.2004.02.002.
- Federici EH, Al-Mondhiry H. High risk of thrombosis recurrence in patients with homozygous and compound heterozygous factor V R506Q (Factor V Leiden) and prothrombin G20210A. Thromb Res. 2019 Oct;182:75-78. doi: 10.1016/j.thromres.2019.07.030. Epub 2019 Aug 1.
研究记录日期
研究主要日期
学习开始 (实际的)
初级完成 (估计的)
研究完成 (估计的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (实际的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
与本研究相关的术语
其他研究编号
- C25049
- 367963 (其他标识符:Integrated Research Application System)
计划个人参与者数据 (IPD)
计划共享个人参与者数据 (IPD)?
IPD 计划说明
药物和器械信息、研究文件
研究美国 FDA 监管的药品
研究美国 FDA 监管的设备产品
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