Are There Differences Between Carriers of Haemophilia A and B?

NCT ID: NCT05217992

Last Updated: 2023-08-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

900 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-05-25

Study Completion Date

2023-04-30

Brief Summary

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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

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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

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Hemophilia

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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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

Genetic assessment (hemophilia testing)

Intervention Type OTHER

Determination of carrier ship of hemophilia with molecular tests

Interventions

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Genetic assessment (hemophilia testing)

Determination of carrier ship of hemophilia with molecular tests

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

\- Family member affected by haemophilia A or B and potential/obligate carriership of HA/HB.

Exclusion Criteria

* None.
Minimum Eligible Age

12 Years

Maximum Eligible Age

85 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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Cliniques universitaires Saint-Luc- Université Catholique de Louvain

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Cedric Hermans, MD,PhD

Role: PRINCIPAL_INVESTIGATOR

Cliniques universitaires Saint-Luc- Université Catholique de Louvain

Locations

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Cliniques universitaires Saint-Luc

Brussels, International, Belgium

Site Status

Countries

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Belgium

References

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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.

Reference Type DERIVED
PMID: 39167764 (View on PubMed)

Other Identifiers

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2021/29MAR/153

Identifier Type: -

Identifier Source: org_study_id

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