Factor X DeficiencyPRO-RBDD-FXNCT07875478
A Database For The Collection Of Clinical, Laboratory, And Treatment Data From Patients With Factor X Deficiency To Define The Natural History Of The Disease And Improve Patient Management
An observational study of Factor X Deficiency, run by Fondazione Luigi Villa at 2 sites in Italy.
Trial summary
Factor X deficiency is one of the most severe rare bleeding disorders and may lead to serious spontaneous hemorrhages, particularly in patients with severe congenital forms. Acquired FX deficiency is even rarer, most frequently associated with AL amyloidosis, and remains poorly characterized. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Factor X Deficiency
- How many people
- 20 participants
- Where
- 2 sitesItaly
- Study dates
- 14 Jun 2026to 14 Jun 2029
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: males and females of any age affected with FX deficiency of any severity as well as their first degree family members
Who may be able to join
- Presence of the informed consent to participate in the study and provide biological samples. NB: lack of consent to the storage of biological samples is not a reason for exclusion;
- Males or females, of all ages, with congenital or acquired coagulation FX deficiency, diagnosed by FX:C values below the normal range;
- First-degree family members of a person diagnosed with FX deficiency of all ages;
- Willingness to participate in prospective follow-up.
Who cannot join
- Previous organ transplant recipient;
- Any psychiatric disorder, other mental disorder, or any other medical disorder that impairs the subject's ability to give informed consent or to comply with the requirements of the study protocol (unless a caregiver or authorized representative is willing to provide consent/assent);
- Special patient populations, including prisoners or those who are deemed medically or cognitively unsuitable for research by their treating physician;
- Inability to obtain a blood sample due to poor or limited venous access;
- Other coagulation factor deficiencies.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy2 sites, 2 recruiting
- Recruiting
Azienda Ospedaliero Universitaria Careggi. SODc Malattie Emorragiche e della Coagulazione
Florence
- Recruiting
Angelo Bianchi Bonomi, Hemophilia and Thrombosis Center
Milan, 20122
About this study
Official title: Coagulation Factor X Deficiency: Natural History And Disease Management
Factor X deficiency is one of the most severe rare bleeding disorders and may lead to serious spontaneous hemorrhages, particularly in patients with severe congenital forms. Acquired FX deficiency is even rarer, most frequently associated with AL amyloidosis, and remains poorly characterized. Establishing a comprehensive patient registry is essential to improve understanding of disease epidemiology, clinical manifestations, and treatment outcomes, ultimately supporting evidence-based management strategies.
Read the detailed description
Factor X deficiency is a rare coagulation disorder that exists in both congenital and acquired forms. Despite its rarity, it represents a clinically important condition because of its potential to cause significant bleeding complications and the limited evidence available to guide patient management.
The congenital form is characterized by a wide spectrum of clinical severity ranging from mild bleeding manifestations to life-threatening hemorrhages. Clinical presentation may vary considerably among patients, making diagnosis and long-term management challenging. Even individuals with partially reduced FX levels may experience clinically relevant bleeding episodes requiring medical intervention.
Acquired FX deficiency is an exceptionally uncommon disorder. Diagnosis relies on recognizing a characteristic laboratory profile and differentiating it from inherited forms and other causes of abnormal coagulation tests. The condition is most commonly linked to underlying systemic diseases, particularly AL amyloidosis, while other etiologies are infrequently reported. Because only a limited number of cases have been documented, knowledge regarding optimal treatment approaches remains scarce.
Given these challenges, systematic collection of clinical, laboratory, and treatment data through dedicated registries is critical. Such initiatives can facilitate a better understanding of disease patterns, diagnostic pathways, therapeutic practices, and long-term outcomes, thereby supporting future research and improving patient care.
- Conditions
- Factor X Deficiency
- Keywords
- Factor X Deficiency, Rare Bleeding Disorders, Congenital Coagulopathy, Prophylactic Treatment, Patient Registry
- Medical subject headings
- Factor X Deficiency
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 with Factor X deficiency | males and females of any age affected with FX deficiency of any severity and family members |
What is being measured
The primary outcome is the main question the study is designed to answer.
Bleedings
To estimate total bleed rates including major, minor, spontaneous and non-spontaneous episodes in patients with FX deficiency
Measured: 3 years
Secondary outcomes (4)
Bleeding severity
To estimate bleed rates according to the severity (major or minor) and modality (spontaneous or non-spontaneous) of episodes in patients with FX deficiency
Measured: 3 years
Bleeding predictors 1
To identify potential predictors of bleeding episodes based on FX plasma levels,
Measured: 3 years
Bleeding predictors 2
To identify potential predictors of bleeding episodes based on treatment approaches (on-demand vs. prophylactic)
Measured: 3 years
Quality of LIfe
To assess longitudinal changes in patients' quality of life using the EQ-5D-5L qeustionnaire at enrollment and at close-out visit
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Oct 2026
- Study start14 Jun 2026
- Primary completion14 Jun 2028 (estimated)
- Study completion14 Jun 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Factor X DeficiencyStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Other
- Enrolment
- 20 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Fondazione Luigi Villa
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Flora Peyvandi, MD, PhD, Principal investigator, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07875478
- Sponsor's protocol ID
- PRO-RBDD-FX
- Acronym
- PRO-RBDD-FX
- Status last verified
- Oct 2026
- First submitted
- 8 Oct 2026
- Last updated
- 20 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 20 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Coagulation Factor X Deficiency: Natural History And Disease Management
- ClinicalTrials.gov ID
- NCT07875478
- Acronym / sponsor ID
- PRO-RBDD-FX / PRO-RBDD-FX
- Conditions
- Factor X Deficiency
- Keywords
- Factor X Deficiency, Rare Bleeding Disorders, Congenital Coagulopathy, Prophylactic Treatment, Patient Registry
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Fondazione Luigi VillaUniversity, hospital or other
- Collaborators
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
- Study start
- 14 Jun 2026 (actual)
- Primary completion
- 14 Jun 2028 (estimated)
- Study completion
- 14 Jun 2029 (estimated)
- First posted
- 15 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.
Factor X deficiency is one of the most severe rare bleeding disorders and may lead to serious spontaneous hemorrhages, particularly in patients with severe congenital forms. Acquired FX deficiency is even rarer, most frequently associated with AL amyloidosis, and remains poorly characterized. Establishing a comprehensive patient registry is essential to improve understanding of disease epidemiology, clinical manifestations, and treatment outcomes, ultimately supporting evidence-based management strategies.
Detailed description
Factor X deficiency is a rare coagulation disorder that exists in both congenital and acquired forms. Despite its rarity, it represents a clinically important condition because of its potential to cause significant bleeding complications and the limited evidence available to guide patient management.
The congenital form is characterized by a wide spectrum of clinical severity ranging from mild bleeding manifestations to life-threatening hemorrhages. Clinical presentation may vary considerably among patients, making diagnosis and long-term management challenging. Even individuals with partially reduced FX levels may experience clinically relevant bleeding episodes requiring medical intervention.
Acquired FX deficiency is an exceptionally uncommon disorder. Diagnosis relies on recognizing a characteristic laboratory profile and differentiating it from inherited forms and other causes of abnormal coagulation tests. The condition is most commonly linked to underlying systemic diseases, particularly AL amyloidosis, while other etiologies are infrequently reported. Because only a limited number of cases have been documented, knowledge regarding optimal treatment approaches remains scarce.
Given these challenges, systematic collection of clinical, laboratory, and treatment data through dedicated registries is critical. Such initiatives can facilitate a better understanding of disease patterns, diagnostic pathways, therapeutic practices, and long-term outcomes, thereby supporting future research and improving patient care.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 3 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Factor X deficiency | – | –males and females of any age affected with FX deficiency of any severity and family members |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- males and females of any age affected with FX deficiency of any severity as well as their first degree family members
Key inclusion criteria (4 listed)
- Presence of the informed consent to participate in the study and provide biological samples. NB: lack of consent to the storage of biological samples is not a reason for exclusion;
- Males or females, of all ages, with congenital or acquired coagulation FX deficiency, diagnosed by FX:C values below the normal range;
- First-degree family members of a person diagnosed with FX deficiency of all ages;
- Willingness to participate in prospective follow-up.
Key exclusion criteria (5 listed)
- Previous organ transplant recipient;
- Any psychiatric disorder, other mental disorder, or any other medical disorder that impairs the subject's ability to give informed consent or to comply with the requirements of the study protocol (unless a caregiver or authorized representative is willing to provide consent/assent);
- Special patient populations, including prisoners or those who are deemed medically or cognitively unsuitable for research by their treating physician;
- Inability to obtain a blood sample due to poor or limited venous access;
- Other coagulation factor deficiencies.
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
Bleedings
Time frame: 3 years
To estimate total bleed rates including major, minor, spontaneous and non-spontaneous episodes in patients with FX deficiency
4 secondary outcomes
Bleeding severity
Time frame: 3 years
Bleeding predictors 1
Time frame: 3 years
Bleeding predictors 2
Time frame: 3 years
Quality of LIfe
Time frame: 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Oct 2026.
- Individual participant dataSharing planned: No
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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.
Flora Peyvandi, MD, PhD principal investigator
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Factor X Deficiency, run by Fondazione Luigi Villa at 2 sites 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 4 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: looking for participants now, as of the sponsor's last update on 20 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 2 sites 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Flora Peyvandi, MD, PHD (+39 02 55035414, contact@fondazioneluigivilla.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Bleedings (time frame: 3 years). 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 20 Oct 2026.