Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Milan, 20122, Italy
Location status: Recruiting
Location contact
Andrea Artoni, MD, PhD
SUB_INVESTIGATOR
Ilaria Mancini, PhD
CONTACT
Ilaria Mancini, PhD
PRINCIPAL_INVESTIGATOR
Recruiting
NCT Number: NCT06928233
Association of TNFAIP3 With Immune-mediated TTP
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.
Recruiting
Interested in participating?
Request InfoKey information
Age range
12 year and older
Sex eligibility
All sexes
Study type
Interventional
Phase
Not applicable
Primary location
Who can participate
Healthy volunteers accepted: Yes
Only the study team can determine whether someone qualifies for participation.
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.
Treatment and study plan
blood sampling
ProcedureBlood sampling for experimental analyses.
Primary outcomes
-
Allele frequency of TNFAIP3 variants in cases vs controls
Time frame: Baseline
Secondary outcomes
-
TNFAIP3 (A20) mRNA expression levels in peripheral blood
Time frame: Baseline
TNFAIP3 (A20) mRNA expression levels in peripheral blood of cases versus controls
-
Association between TNFAIP3 genotype and gene expression
Time frame: Baseline
-
Clinical relapse rate of iTTP during follow-up
Time frame: Baseline
Association between TNFAIP3/A20 variation and iTTP relapse in iTTP patients
-
Severity of acute iTTP episodes
Time frame: Baseline
Association between TNFAIP3/A20 variation and the severity of acute iTTP (composite endpoint including death, treatment refractoriness, exacerbation, and prolonged disease course)
-
Age at iTTP onset
Time frame: Baseline
Association between TNFAIP3/A20 variation and age at onset in iTTP patients
Study contacts
Contact information is provided by the study sponsor or research team.
Sponsors and collaborators
Lead sponsor
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Other
Registry information
Official study title
Association of the TNFAIP3 Genomic Locus With Immune-mediated TTP
Acronym: A20iTTP
Important dates
- Study start
- 2025
- Primary completion
- 2026
- Study completion
- 2026
- First posted
- Apr 15, 2025
- Registry last updated
- Mar 27, 2026
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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