PATIENTS WITH UNEXPLAINED BLEEDING DISORDERSUNEX-EMO 2022NCT07870057
Innovative Approaches to Identify Causative Genetic Variants in Patients With Unexplained Bleeding Disorders
An observational study of PATIENTS WITH UNEXPLAINED BLEEDING DISORDERS, run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico at 1 site in Italy.
Trial 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 more about this study
- Who is it for?
- Ages 3 years and olderHealthy volunteers can take part
- Conditions the study is for
- PATIENTS WITH UNEXPLAINED BLEEDING DISORDERS
- How many people
- 122 participants
- Where
- 1 siteItaly
- Study dates
- 19 May 2023to 18 May 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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.
- Keywords
- Bleeding disorders, Unexplained bleeding, omics data integration, genetic diagnosis
- Medical subject headings
- Hemostatic Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| patients | cases with unexplained bleeding disorders | |
| affected family member | patients' relatives with bleeding history | |
| unaffected family member | patients' relatives with no bleeding history |
What is being measured
The primary outcome is the main question the study is designed to answer.
Epigenetic analysis - methylation
Genome-wide methylation profile distinguishing patients with bleeding disorders from healthy individuals.
Measured: within one year from the enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Oct 2026
- Study start19 May 2023
- Primary completion18 May 2025
- Study completion18 May 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PATIENTS WITH UNEXPLAINED BLEEDING DISORDERSStudies of the same condition, open and under way.
- More trials run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 122 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Istituto Clinico Humanitas, Policlinico di Bari Giovanni XXIII
- Responsible party
- Principal investigator, Flora Peyvandi, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07870057
- Sponsor's protocol ID
- PNRR-MR1-2022-12376583
- Acronym
- UNEX-EMO 2022
- Status last verified
- Oct 2026
- First submitted
- 6 Oct 2026
- Last updated
- 15 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Innovative Approaches to Identify Causative Genetic Variants in Patients With Unexplained Bleeding Disorders
- ClinicalTrials.gov ID
- NCT07870057
- Acronym / sponsor ID
- UNEX-EMO 2022 / PNRR-MR1-2022-12376583
- Keywords
- Bleeding disorders, Unexplained bleeding, omics data integration, genetic diagnosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 122 participants (actual)
- Lead sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoUniversity, hospital or other
- Collaborators
- Istituto Clinico Humanitas, Policlinico di Bari Giovanni XXIII
- Study start
- 19 May 2023 (actual)
- Primary completion
- 18 May 2025 (actual)
- Study completion
- 18 May 2026 (actual)
- First posted
- 13 Oct 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| patients | – | –cases with unexplained bleeding disorders |
| affected family member | – | –patients' relatives with bleeding history |
| unaffected family member | – | –patients' relatives with no bleeding history |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Epigenetic analysis - methylation
Time frame: within one year from the enrollment
Genome-wide methylation profile distinguishing patients with bleeding disorders from healthy individuals.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2026.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of PATIENTS WITH UNEXPLAINED BLEEDING DISORDERS, run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Epigenetic analysis - methylation (time frame: within one year from the enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Oct 2026; AzTrials last refreshed its copy on 6 Nov 2026.