Engagement Study for Participants With Factor V Leiden and Prothrombin G20210A Mutations

NCT07584265 | Not Yet Recruiting

• 2 other identifiers: C25049367963
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Factor V Leiden; Prothrombin G20210A

Outcome Measures

Primary Outcomes (1)

• Willingness to be re-contacted for future clinical trials and Feedback Questionnaire.

  Study duration: Up to 15 weeks

  Until the end of the study (up to 15 weeks)

Secondary Outcomes (11)

• Genotype and zygosity status

  Screening

• Prior venous thromboembolism (VTE) phenotype

  Day 1

• Anticoagulation status

  Day 1

• Haematology parameters

  Day 1

• Clinical chemistry (biochemistry) parameters

  Day 1

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult participants with known or suspected FVL or Prothrombin G20210A mutation

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Richmond Research Institute: lead

Study Sites (1)

Richmond Pharmacology Limited

London, SE1 1YR, United Kingdom

Location

Related Publications (3)

• 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.

  PMID: 33588106 BACKGROUND

• 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.

  PMID: 15081560 BACKGROUND

• 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.

  PMID: 31472339 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Haematology, biochemistry, coagulation, serology and genetic testing (Factor V Leiden and Prothrombin G2010A mutations) will be retained.

Central Study Contacts

James Rickard, MPharm

CONTACT

+44 (0) 20 7042 5800; jrickard@richmondresearchinstitute.org

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 4, 2026
• First Posted: May 13, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): January 31, 2027
• Study Completion (Estimated): January 31, 2027
• Last Updated: May 13, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)