Are There Differences Between Carriers of Haemophilia A and B?

Hemophilia Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05217992
• Other study ID #: 2021/29MAR/153
• Status: Completed
• Start date: May 25, 2021
• Est. completion date: April 30, 2023

Study information

• Verified date: August 2023
• Source: Cliniques universitaires Saint-Luc- Université Catholique de Louvain
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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 carriers of haemophilia A (HA) and B (HB).

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 900
• Est. completion date: April 30, 2023
• Est. primary completion date: April 30, 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 12 Years to 85 Years

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• None.

Related Conditions & MeSH terms

• Hemophilia
• Hemophilia A

Intervention

Other:
• Genetic assessment (hemophilia testing)
Determination of carrier ship of hemophilia with molecular tests

Locations

Country	Name	City	State
Belgium	Cliniques universitaires Saint-Luc	Bruxelles	International

Sponsors (1)

Lead Sponsor	Collaborator
Cliniques universitaires Saint-Luc- Université Catholique de Louvain

Country where clinical trial is conducted

Belgium, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	18 month