Association of TNFAIP3 With Immune-mediated TTP (A20iTTP)

Institute of Hospitalization and Scientific Care (IRCCS)

Status

Active, not recruiting

Conditions

Thrombotic Thrombocytopenic Purpura, Acquired

Treatments

Procedure: blood sampling

Study type

Interventional

Funder types

Other

Identifiers

NCT06928233

A20iTTP

2022-0469 (Other Grant/Funding Number)

Details and patient eligibility

About

This study aims to investigate whether genetic variation in the TNFAIP3 locus is associated with immune-mediated thrombotic thrombocytopenic purpura (iTTP), and whether such association is mediated by decreased expression of A20 (TNFAIP3). The study includes a case-control design to assess genotype-expression association and a cohort study to evaluate clinical outcomes such as disease relapse.

Enrollment

400 estimated patients

Sex

All

Ages

12+ years old

Volunteers

Accepts Healthy Volunteers

Inclusion and exclusion criteria

Patients:

Inclusion Criteria:

Diagnosis of iTTP
Above 12 years of age
Caucasian, Italian origin
Written informed consent to participate in the study

Exclusion Criteria:

Patients who do not meet the above-listed criteria will be excluded from participation in the study.

Controls will be healthy Italian volunteers of Caucasian ethnicity, with no history of thrombotic thrombocytopenic purpura, frequency-matched to cases by age and sex, and who have provided written informed consent to participate in the study.