Are There Differences Between Carriers of Haemophilia A and B?

NCT05217992 | Completed

• 1 other identifier: 2021/29MAR/153
• Study Type: observational
• Target: 900
• Locations: 1 country
• Sites: 1

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).

Conditions

Hemophilia

Keywords

hemophilia A; hemophilia B; genetic testing; carriers

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

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

Other: Genetic assessment (hemophilia testing)

Interventions

Genetic assessment (hemophilia testing) OTHER

Determination of carrier ship of hemophilia with molecular tests

Carriers or potential carriers of hemophilia A and B

Eligibility Criteria

• Age: 12 Years - 85 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

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

You may not qualify if:

• None.

Sponsors & Collaborators

• Cliniques universitaires Saint-Luc- Université Catholique de Louvain: lead

Study Sites (1)

Cliniques universitaires Saint-Luc

Brussels, International, 1200, Belgium

Location

Related Publications (1)

• 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.

  PMID: 39167764 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Genetic testing for hemophilia

MeSH Terms

Conditions

Hemophilia A; Hemophilia B

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Coagulation Protein Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked

Study Officials

• Cedric Hermans, MD,PhD

  Cliniques universitaires Saint-Luc- Université Catholique de Louvain

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 19, 2022
• First Posted: February 1, 2022
• Study Start: May 25, 2021
• Primary Completion: April 30, 2023
• Study Completion: April 30, 2023
• Last Updated: August 7, 2023

Record last verified: 2023-08

Data Sharing

• IPD Sharing: Will not share

Locations

BE (1)