Factor V LeidenNCT07584265
Engagement Study for Participants With Factor V Leiden and Prothrombin G20210A Mutations
An observational study of Factor V Leiden and Prothrombin G20210A, run by Richmond Research Institute at 1 site in United Kingdom.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Factor V Leiden, Prothrombin G20210A
- How many people
- 100 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 21 Apr 2026to 31 Jan 2027
- Phase
- Observational
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
Study population: Adult participants with known or suspected FVL or Prothrombin G20210A mutation
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom1 site, 1 recruiting
- Recruiting
Richmond Pharmacology Limited
London, SE1 1YR
Khaled Abouollo, MSc, +44 (0) 20 7042 5800, k.abouollo@richmondpharmacology.com
Edward Jackson, MBChB PhD
About this study
Official title: 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.
Read the detailed description
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
- Conditions
- Factor V Leiden, Prothrombin G20210A
What is being measured
The primary outcome is the main question the study is designed to answer.
Willingness to be re-contacted for future clinical trials and Feedback Questionnaire.
Study duration: Up to 15 weeks
Measured: Until the end of the study (up to 15 weeks)
Secondary outcomes (11)
Genotype and zygosity status
Proportion of participants with confirmed Factor V Leiden or Prothrombin G20210A mutation, including zygosity (heterozygous or homozygous), based on targeted genetic testing.
Measured: Screening
Prior venous thromboembolism (VTE) phenotype
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.
Measured: Day 1
Anticoagulation status
Current and prior use of anticoagulant therapy, including type and indication, as recorded in medical history and concomitant medications.
Measured: Day 1
Haematology parameters
Descriptive summary of haematology parameters obtained from blood samples as specified in the protocol
Measured: Day 1
Clinical chemistry (biochemistry) parameters
Descriptive summary of clinical chemistry parameters obtained from blood samples as specified in the protocol.
Measured: Day 1
Coagulation parameters
Descriptive summary of coagulation parameters obtained from blood samples as specified in the protocol.
Measured: Day 1
Respiratory rate
Measurement of respiratory rate obtained after rest in the supine position.
Measured: Day 1
Body temperature
Measurement of body temperature obtained after rest in the supine position.
Measured: Day 1
Heart rate
Measurement of heart rate obtained after rest in the supine position
Measured: Day 1
Blood pressure
Measurement of systolic and diastolic blood pressure obtained after rest in the supine position
Measured: Day 1
Electrocardiogram (ECG) parameters
12-lead electrocardiogram measurements performed in triplicate after rest, including heart rate and standard interval measurements (e.g., PR, QRS, QT/QTc intervals).
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 May 2026
- Study start21 Apr 2026
- Primary completion31 Jan 2027 (estimated)
- Study completion31 Jan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Factor V LeidenStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Richmond Research Institute
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07584265
- Sponsor's protocol ID
- C25049
- Other IDs
- 367963
- Status last verified
- May 2026
- First submitted
- 4 Mar 2026
- Last updated
- 29 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Sharing of personal data with other organisations is not planned.
Publications
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.
PubMed 33588106Bank 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.
PubMed 15081560Federici 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.
PubMed 31472339