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CompletedNCT07870057UNEX-EMO 2022Updated Oct 15, 2026

Innovative Approaches to Identify Causative Genetic Variants in Patients With Unexplained Bleeding Disorders

An observational study in PATIENTS WITH UNEXPLAINED BLEEDING DISORDERS, sponsored by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico. Completed at 1 site in Italy. Open to participants aged 3 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-15.

Sponsored by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico · Observational

Updated Oct 15, 2026Sponsor changedNewly registeredGo to Updates ↓
Study type
Observational
Model
Case-control
Time perspective
Prospective
Enrollment
122
Ages
3 Years and older
Sex
All
01

Study summary

Creation of an Italian network for unexplained bleeding disorders, using integrated multi-omics approaches to improve diagnosis, optimize patient management, and identify novel therapeutic targets.

Read the detailed description

Rare diseases affect millions of people across Europe. Many individuals with unexplained bleeding disorders live for years without a diagnosis, which can lead to serious health consequences. Although new laboratory and genetic tests have improved diagnosis, about one-third of patients still have no identified cause for their condition. This project aims to create a network of Italian centres working together to improve diagnosis through advanced biological and genetic analyses. By identifying the underlying causes of these disorders, we hope to provide better care, support the development of new treatments, and avoid unnecessary therapies that may have harmful side effects.

02

Conditions studied

  • PATIENTS WITH UNEXPLAINED BLEEDING DISORDERS

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Keywords

  • Bleeding disorders
  • Unexplained bleeding
  • omics data integration
  • genetic diagnosis
03

In context

Hemostatic Disorders

515 studies on the registry are indexed under Hemostatic Disorders; 72 are open to participants now.

This study's enrollment of 122 is above the median of 100 across 233 observational studies indexed under Hemostatic Disorders.

Browse Hemostatic Disorders studies →

Lead sponsor

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico is the lead sponsor of 232 studies on the registry; 83 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
3 Years and older
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Homogenous population of probands with unexplained bleedings following a standardized and shared diagnostic algorithm (i.e., patients with an abnormal bleeding score and a normal state-of-the-art coagulation and platelet function test results).

The study will enrol both adult and pediatric patients recruited at the Haemostasis and Thrombosis Unit of Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and at participating centres (University Hospital Policlinico Giovanni XXIII, Bari), as well as their first- and second-degree relatives, regardless of whether they are affected by bleeding symptoms

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • Diagnosis of an unexplained bleeding disorder (UBD)
  • Willingness to participate in the study and provision of written informed consent
  • Ability to provide the blood sample required for the study analyses
  • Male or female participants aged 3 years or older (to avoid collecting large blood volumes from newborns)
  • ISTH-BAT score >4 in adult males, >6 in adult females, and >3 in children

Exclusion criteria

Exclusion Criteria:

  • Age below 3 years
  • History of organ transplantation
  • Any condition that may impair the participant's ability to comply with the study protocol requirements
  • Inability to obtain a blood sample (e.g., poor or limited venous access)
  • Diagnosis of an inherited or acquired bleeding disorder
05

Study design

Observational model
Case-control
Time perspective
Prospective
Enrollment
122 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • patients

    cases with unexplained bleeding disorders

  • affected family member

    patients' relatives with bleeding history

  • unaffected family member

    patients' relatives with no bleeding history

06

What researchers measure

Primary outcomes

  1. Epigenetic analysis - methylation

    Genome-wide methylation profile distinguishing patients with bleeding disorders from healthy individuals.

    Time frame: within one year from the enrollment

07

Study locations

1 site
  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
    Milan, Italy
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Timeline

2 registry updates since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Ran from May 2023 to primary completion in May 2025, 23 months.

Of 103 non-industry observational studies under Hemostatic Disorders, half reached primary completion within 28 months of starting (the median), counting those still running; a quarter within 12 and three quarters within 62. This study's 23 months is below that.

Counting every sponsor, half of 122 studies reached it within 31 months; a quarter within 11 and three quarters within 64.

How these figures are worked out, and which studies are left out of them.

Registered
Oct 6, 2026
First posted
Oct 13, 2026
StartActual
May 19, 2023
Primary completionActual
May 18, 2025
CompletionActual
May 18, 2026
Last update
Oct 15, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
Also revised
sponsor
Registered
First appeared on the registry
Oct 13, 2026
Show all 2 updates
  1. Oct 15, 2026
    Sponsor Collaborators changed
    + 1 other change: identifiers
  2. Oct 13, 2026
    First appeared on the registry

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

10

Registry details

Key details

Study ID
NCT07870057
Collaborators
Istituto Clinico Humanitas, Policlinico di Bari Giovanni XXIII
Responsible party
Flora Peyvandi (Prof, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico) — Principal investigator
First posted
Oct 13, 2026
Start date
May 19, 2023
Primary completion
May 18, 2025
Completion
May 18, 2026
Last update
Oct 15, 2026

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Oct 2026. You cannot join it, but the record below documents what was studied.

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