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.
Panoramica dello studio
Stato
Condizioni
Descrizione dettagliata
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
Tipo di studio
Iscrizione (Stimato)
Contatti e Sedi
Contatto studio
- Nome: James Rickard, MPharm
- Numero di telefono: +44 (0) 20 7042 5800
- Email: jrickard@richmondresearchinstitute.org
Luoghi di studio
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London, Regno Unito, SE1 1YR
- Reclutamento
- Richmond Pharmacology Limited
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Contatto:
- Khaled Abouollo, MSc
- Numero di telefono: +44 (0) 20 7042 5800
- Email: k.abouollo@richmondpharmacology.com
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Investigatore principale:
- Edward Jackson, MBChB PhD
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Criteri di partecipazione
Criteri di ammissibilità
Età idonea allo studio
- Adulto
- Adulto più anziano
Accetta volontari sani
Metodo di campionamento
Popolazione di studio
Descrizione
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.
Piano di studio
Come è strutturato lo studio?
Dettagli di progettazione
Cosa sta misurando lo studio?
Misure di risultato primarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
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Willingness to be re-contacted for future clinical trials and Feedback Questionnaire.
Lasso di tempo: 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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Misure di risultato secondarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
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Genotype and zygosity status
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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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Collaboratori e investigatori
Sponsor
Pubblicazioni e link utili
Pubblicazioni generali
- 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.
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Primo inviato che soddisfa i criteri di controllo qualità
Primo Inserito (Effettivo)
Aggiornamenti dei record di studio
Ultimo aggiornamento pubblicato (Effettivo)
Ultimo aggiornamento inviato che soddisfa i criteri QC
Ultimo verificato
Maggiori informazioni
Termini relativi a questo studio
Altri numeri di identificazione dello studio
- C25049
- 367963 (Altro identificatore: Integrated Research Application System)
Piano per i dati dei singoli partecipanti (IPD)
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