NCT06928233

Brief Summary

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.

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
400

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Apr 2025

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

April 7, 2025

Completed
Same day until next milestone

Study Start

First participant enrolled

April 7, 2025

Completed
8 days until next milestone

First Posted

Study publicly available on registry

April 15, 2025

Completed
12 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2026

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2026

Completed
Last Updated

March 27, 2026

Status Verified

May 1, 2025

Enrollment Period

12 months

First QC Date

April 7, 2025

Last Update Submit

March 26, 2026

Conditions

Thrombotic Thrombocytopenic Purpura, Acquired

Keywords

A20iTTPTNFAIP3

Outcome Measures

Primary Outcomes (1)

  • Allele frequency of TNFAIP3 variants in cases vs controls

    Baseline

Secondary Outcomes (5)

  • TNFAIP3 (A20) mRNA expression levels in peripheral blood

    Baseline

  • Association between TNFAIP3 genotype and gene expression

    Baseline

  • Clinical relapse rate of iTTP during follow-up

    Baseline

  • Severity of acute iTTP episodes

    Baseline

  • Age at iTTP onset

    Baseline

Study Arms (2)

Patients with iTTP

OTHER

Intervention: blood sampling during standard collection for routine testing, with additional sample for experimental analyses.

Procedure: blood sampling

Healthy donors

OTHER

Intervention: blood sampling during standard donation, with an additional sample collected for experimental analyses.

Procedure: blood sampling

Interventions

blood samplingPROCEDURE

Blood sampling for experimental analyses.

Healthy donorsPatients with iTTP

Eligibility Criteria

Age12 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Milan, 20122, Italy

RECRUITING

MeSH Terms

Conditions

Thrombotic thrombocytopenic purpura, acquired

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Ilaria Mancini, PhD

    Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Ilaria Mancini, PhD

CONTACT

+390255035414ilaria.mancini@guest.unimi.it

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
PhD

Study Record Dates

First Submitted

April 7, 2025

First Posted

April 15, 2025

Study Start

April 7, 2025

Primary Completion

April 1, 2026

Study Completion

April 1, 2026

Last Updated

March 27, 2026

Record last verified: 2025-05

Data Sharing

IPD Sharing
Will not share

Locations

IT(1)