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

NCT07875478 | Recruiting

• 1 other identifier: PRO-RBDD-FX
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 2

Brief 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. Establishing a comprehensive patient registry is essential to improve understanding of disease epidemiology, clinical manifestations, and treatment outcomes, ultimately supporting evidence-based management strategies.

Conditions

Factor X Deficiency

Keywords

Factor X Deficiency; Rare Bleeding Disorders; Congenital Coagulopathy; Prophylactic Treatment; Patient Registry

Outcome Measures

Primary Outcomes (1)

• Bleedings

  To estimate total bleed rates including major, minor, spontaneous and non-spontaneous episodes in patients with FX deficiency

  3 years

Secondary Outcomes (3)

• Bleeding severity

  3 years

• Bleeding predictors

  3 years

• QoL

  3 years

Study Arms (1)

Patients with Factor X deficiency

males and females of any age affected with FX deficiency of any severity and family members

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

males and females of any age affected with FX deficiency of any severity as well as their first degree family members

You may qualify if:

• 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.

You may not qualify if:

• Previous organ transplant recipient;
• Any psychiatric disorder, other mental disorder, or any other medical disorder that 11 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.

Sponsors & Collaborators

• Fondazione Luigi Villa: lead
• Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico: collaborator

Study Sites (2)

Azienda Ospedaliero Universitaria Careggi. SODc Malattie Emorragiche e della Coagulazione

Florence, Italy

RECRUITING

Angelo Bianchi Bonomi, Hemophilia and Thrombosis Center

Milan, 20122, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Plasma and DNA samples to carry out centralized biochemical and genetic characterization of the patients

MeSH Terms

Conditions

Factor X Deficiency

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Coagulation Protein Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Flora Peyvandi, MD, PhD

  Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Flora Peyvandi, MD, PHD

CONTACT

+39 02 55035414; contact@fondazioneluigivilla.org

Marzia Menegatti, MCs, PhD

CONTACT

+39 02 5032727; marzia.menegatti@guest.unimi.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 8, 2026
• First Posted: October 15, 2026
• Study Start: June 14, 2026
• Primary Completion (Estimated): June 14, 2028
• Study Completion (Estimated): June 14, 2029
• Last Updated: October 15, 2026

Record last verified: 2026-10

Data Sharing

• IPD Sharing: Will not share

Locations

IT (2)