HemophiliaNCT05217992
Are There Differences Between Carriers of Haemophilia A and B?
An observational study of Hemophilia, run by Cliniques universitaires Saint-Luc- Université Catholique de Louvain at 1 site in Belgium.
Trial summary
This study aims to develop a systematic genetic screening strategy for (potential) female carriers of haemophilia by identifying as many female carriers as possible within the families of haemophilia patients regularly followed at Cliniques universitaires Saint-Luc (CUSL) and to search for differences between female… Read more about this study
- Who is it for?
- Ages 12 to 85 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Hemophilia
- What is being tested?
- Genetic assessment (hemophilia testing)
- How many people
- 900 participants
- Where
- 1 siteBelgium
- Study dates
- 25 May 2021to 30 Apr 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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 12 to 85 years
- Women only
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 1. Carriers of HA/HB already known and registered at the HTC (i.e. with an EMR). 2. Carriers identified by pedigree review, invited/informed by family related haemophilia patients registered in the HTC, accepting to participate after informed consent.
Who may be able to join
- Family member affected by haemophilia A or B and potential/obligate carriership of HA/HB.
Who cannot join
- None.
Trial locations and contacts
1 site in 1 country.
Belgium1 site
Cliniques universitaires Saint-Luc
Brussels, International, 1200
About this study
Official title: Are There Differences Between Carriers of Haemophilia A and B? A Comparative Study of Clotting Factor Deficiencies, Bleeding Phenotype and Haemostatic Treatment Requirements
This study aims to develop a systematic genetic screening strategy for (potential) female carriers of haemophilia by identifying as many female carriers as possible within the families of haemophilia patients regularly followed at Cliniques universitaires Saint-Luc (CUSL) and to search for differences between female carriers of haemophilia A (HA) and B (HB).
Read the detailed description
In order to complete our local registry of female carriers, the family trees of haemophilia patients will be systematically updated during their follow-up consultations at the haemophilia centre. Female carriers not yet known in our centre, identified by the updating of pedigrees, will be invited to present themselves in the haematology consultation and to participate in the study by means of an invitation and information letter which will be given/sent to them by the index haemophilia patient. Female carriers already known for whom missing data and/or the indication of regular follow-up have been identified during the file review will also be invited to attend a consultation within the framework of the study.
At these consultations, (potential) carriers will be given information about haemophilia, the mode of genetic transmission and the implications of carrier status on patients' lives (bleeding prevention, reproductive choices, current haemophilia treatments and future prospects). We will then determine the bleeding phenotype of each patient by taking a comprehensive bleeding history. With the consent of the participants concerned, the familial genetic variant responsible for haemophilia will be sought in them in order to definitively establish their carrier status. The basal level of coagulation factors VIII (HA)/IX (HB) will also be determined. If a deficiency is found, haemostatic treatment adapted to the patient's situation will be initiated and clinical follow-up outside the study recommended.
After completion of the data collection, the data will be analyzed and compared between HA and HB carriers in order to identify possible differences between these two populations.
- Conditions
- Hemophilia
- Being tested
- Genetic assessment (hemophilia testing)
- Keywords
- hemophilia A, hemophilia B, genetic testing, carriers
- Medical subject headings
- Hemophilia A, Hemophilia B
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic assessment (hemophilia testing)Other
Determination of carrier ship of hemophilia with molecular tests
| Study group | Role | What they receive |
|---|---|---|
| Carriers or potential carriers of hemophilia A and B | All obligate and potential carriers among families of patient with hemophilia followed at the hemophilia treatment center of the Cliniques universitaires Saint-Luc, Brussels. Belgium Receives: Other: Genetic assessment (hemophilia testing) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of carriers, bleeding phenotype in hemophilia A and B carriers
Comparison of bleeding phenotype between hemophilia A and B carriers, number of carriers per family confirmed at the end of the study
Measured: 18 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Feb 2022
- Study start25 May 2021
- Primary completion30 Apr 2023
- Study completion30 Apr 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for HemophiliaStudies of the same condition, open and under way.
- More trials run by Cliniques universitaires Saint-Luc- Université Catholique de LouvainThe sponsor's other registered studies.
- 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 900 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Cedric Hermans, MD,PhD, Principal investigator, Cliniques universitaires Saint-Luc- Université Catholique de Louvain
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05217992
- Sponsor's protocol ID
- 2021/29MAR/153
- Status last verified
- Aug 2023
- First submitted
- 19 Jan 2022
- Last updated
- 7 Aug 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Krumb E, Lambert C, Van Damme A, Hermans C. Proactive systematic hemophilia carrier screening: a step toward gender equity in hemophilia care. Blood Adv. 2024 Oct 22;8(20):5268-5278. doi: 10.1182/bloodadvances.2024013866.
PubMed 39167764
Study at a glance
From the registry record, last updated by the sponsor on 7 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Are There Differences Between Carriers of Haemophilia A and B? A Comparative Study of Clotting Factor Deficiencies, Bleeding Phenotype and Haemostatic Treatment Requirements
- ClinicalTrials.gov ID
- NCT05217992
- Acronym / sponsor ID
- 2021/29MAR/153
- Conditions
- Hemophilia
- Keywords
- hemophilia A, hemophilia B, genetic testing, carriers
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 900 participants (actual)
- Lead sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de LouvainUniversity, hospital or other
- Study start
- 25 May 2021 (actual)
- Primary completion
- 30 Apr 2023 (actual)
- Study completion
- 30 Apr 2023 (actual)
- First posted
- 1 Feb 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study aims to develop a systematic genetic screening strategy for (potential) female carriers of haemophilia by identifying as many female carriers as possible within the families of haemophilia patients regularly followed at Cliniques universitaires Saint-Luc (CUSL) and to search for differences between female carriers of haemophilia A (HA) and B (HB).
Detailed description
In order to complete our local registry of female carriers, the family trees of haemophilia patients will be systematically updated during their follow-up consultations at the haemophilia centre. Female carriers not yet known in our centre, identified by the updating of pedigrees, will be invited to present themselves in the haematology consultation and to participate in the study by means of an invitation and information letter which will be given/sent to them by the index haemophilia patient. Female carriers already known for whom missing data and/or the indication of regular follow-up have been identified during the file review will also be invited to attend a consultation within the framework of the study.
At these consultations, (potential) carriers will be given information about haemophilia, the mode of genetic transmission and the implications of carrier status on patients' lives (bleeding prevention, reproductive choices, current haemophilia treatments and future prospects). We will then determine the bleeding phenotype of each patient by taking a comprehensive bleeding history. With the consent of the participants concerned, the familial genetic variant responsible for haemophilia will be sought in them in order to definitively establish their carrier status. The basal level of coagulation factors VIII (HA)/IX (HB) will also be determined. If a deficiency is found, haemostatic treatment adapted to the patient's situation will be initiated and clinical follow-up outside the study recommended.
After completion of the data collection, the data will be analyzed and compared between HA and HB carriers in order to identify possible differences between these two populations.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Carriers or potential carriers of hemophilia A and B | – | Other: Genetic assessment (hemophilia testing)All obligate and potential carriers among families of patient with hemophilia followed at the hemophilia treatment center of the Cliniques universitaires Saint-Luc, Brussels. Belgium |
Who may qualify
- Ages
- 12 to 85 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 1. Carriers of HA/HB already known and registered at the HTC (i.e. with an EMR). 2. Carriers identified by pedigree review, invited/informed by family related haemophilia patients registered in the HTC, accepting to participate after informed consent.
Key inclusion criteria (1 listed)
- Family member affected by haemophilia A or B and potential/obligate carriership of HA/HB.
Key exclusion criteria (1 listed)
- None.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic assessment (hemophilia testing)Determination of carrier ship of hemophilia with molecular tests | Other | Carriers or potential carriers of hemophilia A and B |
Primary outcome
Number of carriers, bleeding phenotype in hemophilia A and B carriers
Time frame: 18 month
Comparison of bleeding phenotype between hemophilia A and B carriers, number of carriers per family confirmed at the end of the study
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Aug 2023.
- Derived from this study: PubMed 39167764Krumb E, Lambert C, Van Damme A, Hermans C. Proactive systematic hemophilia carrier screening: a step toward gender equity in hemophilia care. Blood Adv. 2024 Oct 22;8(20):5268-5278. doi: 10.1182/bloodadvances.2024013866.
- Individual participant dataSharing planned: No
Related trials for Hemophilia
RecruitingObservational study
The CACHE Study: Coronary Artery Care in HaEmophilia
Haemophilia, Cardiovascular Diseases
Active, not recruitingObservational study
A Study to Learn About the Study Medicine -Hympavzi in Congenital Hemophilia Patients Without Inhibitors in Japan.
Hemophilia A or B
RecruitingPhase 1/2
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of NXT007 in Persons With Severe or Moderate Hemophilia A
Hemophilia A
Active, not recruitingPhase 3
A Study to Evaluate the Efficacy and Safety of Factor IX Gene Therapy With PF-06838435 in Adult Males With Moderately Severe to Severe Hemophilia B
Hemophilia B
Not yet recruiting
Safety of Intraosseous Anaesthesia in Children With Haemophilia
Haemophilia A, Haemophilia B
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Cedric Hermans, MD,PhD principal investigator
Cliniques universitaires Saint-Luc- Université Catholique de Louvain
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hemophilia, run by Cliniques universitaires Saint-Luc- Université Catholique de Louvain at 1 site in Belgium.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 7 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of carriers, bleeding phenotype in hemophilia A and B carriers (time frame: 18 month). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05217992, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Aug 2023.