Brief Title
Are There Differences Between Carriers of Haemophilia A and B?
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
Brief 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).
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 Type
Observational
Primary Outcome
Number of carriers, bleeding phenotype in hemophilia A and B carriers
Condition
Hemophilia
Intervention
Genetic assessment (hemophilia testing)
Study Arms / Comparison Groups
Carriers or potential carriers of hemophilia A and B
Description: 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
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Other
Estimated Enrollment
500
Start Date
May 25, 2021
Completion Date
October 2022
Primary Completion Date
October 2022
Eligibility Criteria
Inclusion Criteria: - Family member affected by haemophilia A or B and potential/obligate carriership of HA/HB. Exclusion Criteria: - None.
Gender
Female
Ages
12 Years - 85 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Contacts
Cedric Hermans, MD,PhD, +3227641800, [email protected]
Location Countries
Belgium
Location Countries
Belgium
Administrative Informations
NCT ID
NCT05217992
Organization ID
2021/29MAR/153
Responsible Party
Sponsor
Study Sponsor
Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Study Sponsor
Cedric Hermans, MD,PhD, Principal Investigator, Cliniques universitaires Saint-Luc
Verification Date
January 2022