Belgian Antithrombin Deficiency Registry

NCT05891899 | Not Yet Recruiting

• 1 other identifier: UZB-ATRegistry
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

Inherited antithrombin deficiency is a rare autosomal dominant disorder that predisposes to the development of venous thromboembolism, even at young age. Inherited AT deficiency is considered the most severe form of inherited thrombophilia, increasing up to 40 times the risk of venous thrombosis. Our center has been performing research on antithrombin deficiency for several years. Therefore, it was decided to initiate a registry for patients with inherited antithrombin deficiency with the goal to gain more insight into what drives the development of a thrombotic event in patients with AT deficiency, both at the environmental level (lifestyle, management of risk situations, presence of additional thrombotic risk factors…) and at the genetic level.

Conditions

Antithrombin III Deficiency

Outcome Measures

Primary Outcomes (3)

• Change in occurrence of thromboembolic events over time

  Inquiry on occurrence of thromboembolic event by means of questionnaire

  Every 2 years for a period of 25 years or until death, whichever comes first

• Change in occurrence of arterial thrombotic events over time

  Inquiry on occurrence of arterial thrombotic event by means of questionnaire

  Every 2 years for a period of 25 years or until death, whichever comes first

• Change in occurrence of obstetric complications over time

  Inquiry on occurrence of obstetric complications by means of questionnaire

  Every 2 years for a period of 25 years or until death, whichever comes first

Secondary Outcomes (2)

• Change in disease-modifying factors: thrombotic risk factors

  Every 2 years for a period of 25 years or until death, whichever comes first

• Change in anticoagulant treatment

  Every 2 years for a period of 25 years or until death, whichever comes first

Study Arms (1)

Antithrombin deficient patients

patients with proven, inherited antithrombin deficiency

Other: observation

Interventions

observation OTHER

No interventions planned: treatment of patients at the discretion of the treating/responsible physician

Antithrombin deficient patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with confirmed inherited antithrombin deficiency are eligible for enrollment

You may qualify if:

• Patients with genetically confirmed antithrombin deficiency
• Patients with phenotypic antithrombin deficiency in which the genetic defect has not been elucidated yet.

Sponsors & Collaborators

• Universitair Ziekenhuis Brussel: lead

Study Sites (1)

UZ Brussel

Brussels, 1090, Belgium

Location

Biospecimen

Retention: SAMPLES WITH DNA

Citrated plasma Whole blood

MeSH Terms

Conditions

Antithrombin III Deficiency

Interventions

Observation

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Blood Protein Disorders; Thrombophilia; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Officials

• Christelle Orlando, PhD

  Universitair Ziekenhuis Brussel

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Christelle Orlando, PhD

CONTACT

0032 4763528; christelle.orlando@uzbrussel.be

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 25 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: May 12, 2023
• First Posted: June 7, 2023
• Study Start: May 1, 2025
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2060
• Last Updated: December 4, 2024

Record last verified: 2024-12

Locations

BE (1)